X-linked dominant inherited diseases with lethality in hemizygous males - Human Genetics
- ️Kantner, Gisela
- ️Fri Jul 01 1983
Aicardi J (1980) Aicardi syndrome in a male infant. Editorial correspondence. J Pediatr 97:1040–1041
Aicardi J, Chevrie J, Rousseau F (1969) Le syndrome spasmes en flexion, agénesie calleuse, anomalies chorioretiennes. Arch Fr Pédiatr 26:1103–1120
Aicardi J, Lefebvre J, Lerique-Koechlin A (1965) A new syndrome: spasms in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol 19:609–610
Ajacques JC (1982) Le syndrome de Mohr. Syndrome orofaciodigital type II. Rev Stomatol Chir Maxillofac 82:234–240
Bardach M (1925) Systematisierte Naevusbildungen bei einem eineiigen Zwillingspaar. Zschr Kinderheilkunde 39:542–550
Bargman HW, Wyse C (1975) Incontinentia pigmenti in a 21-year-old man. Arch Dermatol 11:1606–1608
Barnes CM (1979) Incontinentia pigmenti. Report of a case with persisten activity into adult life. Cutis 22:621–624
Barth J, Werchau G, Hanstein UF (1980) Incontinentia pigmenti Bloch-Sulzberger in zwei Generationen (incontinentia pigmenti Bloch-Sulzberger in two generations-authors translation). Dermatol Monatsschr 166:126–128
Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW (1980) Cerebral dysfunction in asymptomatic carriers of ornithine-transcarbamylase-deficiency. N Engl J Med 28:482–485
Becker PE (1972) Neues zur Genetik und Klassifikation der Muskeldystrophien; Hemizygot letaler Typ? Humangenetik 17:1–22, spez page 10
Beganovic N, Lommen EYP (1977) A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects. Acta Paediatr Scand 66:255–256
Bergström K, Gustavson KH, Jorulf H (1972) Chondrodystrophia calcificans congenita (Conradi's disease) in a mother and her child. Clin Genet 3:158–161
Bertoni JM, von Loh S, Allen RJ (1979) The Aicardi syndrome: report of 4 cases and review of the literature. Ann Neurol 5:475–482
Birth Defects Compendium Second Ed, Alan R Liss, Luc 1979. Bergsma D (ed) The National Foundation March of Dimes. The Macmillan Press Ltd
Bloch B (1926) Eigentümliche bisher nicht beschriebene Pigmentaffektion (Incontinentia pigmenti). Schweiz Med Wochenschr 7:404
Bodian E (1966) Skin manifestations of Conradi's disease. Arch Dermatol 94:743–748
Braun-Falco O, Hofmann C (1975) Das Goltz-Syndrom; Über-sicht und Kasuistik. Hautarzt 26:393–400
Bresson JL, Schmitz J, Saudubray JM, Lesec G, Hummel JA, Rey J (1980) Le syndrome de Johanson-Blizzard. Une autre case de lipomatose pancréatique (Johanson-Blizzard's syndrome: another case of pancreatic lipomatosis-author's translation). Arch Fr Pédiatr 37:21–24
Burgdorf HW, Dick GF, Sonderberg HD (1981) Focal dermal hypoplasia in a father and daughter. J Am Acad Dermatol 4:273–277
Campbell AGM, Rosenberg LE, Snodgrass PJ, Nuzum CT (1971) Lethal neonatal hyperammonemia due to complete ornithine-transcarbamylase deficiency (letter). Lancet II:217–218
Campbell AGM, Rosenberg LE, Snodgrass PJ, Nuzum CT (1973) Ornithine-transcarbamylase deficiency: a cause of lethal nconatal hyperammonemia in males. N Engl J Med 288:1–6
Cantu JM, del Castillo V, Jimenez M, Ruiz-Barquin E (1973) Chromosomal instability in incontinentia pigmenti. Ann Genet 16:117–119
Cantu-Garza JM, Riz-Barquin E (1971) On the inheritance of incontinentia pigmenti. Dermatologica 143:190–197
Cao A, Cianchetti C, Signarini E, Loi M, Sanna G, de Virgilis S (1977) Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings. Clin Genet 12:290–296
Capella JA, Kaufmann HE, Lill FJ (1963) Hereditary cataracts and microphthalmia. Am J Ophthalmol 56:454–458
Carney RG, Jr (1976) Incontinentia pigmenti: a world statistical analysis. Arch Dermatol 112:535–542
Carney RG, Carney RG, Jr (1970) Incontinentia pigmenti. Arch Dermatol 102:157–162
Cohen MM, Charrow J, Nadler HL (1981) Prenatal monitoring and genetic counseling in a 47,XXX female with the oral-facial-digital syndrome-type I (letter). Am J Hum Genet 33:649–650
Contarini O, Ferguson EF, Houston CH (1977) Focal dermal hypoplasia (Goltz's syndrome) manifesting as condyloma accuminatum; report of a case and review of the literature. Dis Colon Rectum 20:43–48
Corbeel LM, Colombo PJ, van Sande M, Weber A (1969) Periodic attacks of lethargy with ammonia intoxication due to a congenital defect in ureogenesis. Arch Dis Child 44:681–687
Co-Te P, Dolman CL, Tischler B, Lowry RB (1970) Oral-facial-digital syndrome. Am J Dis Child 119:280–283
Curatolo P, Libutti G, Dallapicola B (1980) Aiardi syndrome in a male infant. J Pediatr 96:286
Curth HO (1949) Follicular atrophoderma and pseudopelade associated with chondrodystrophia calcificans congenita. J Invest dermatol 13:233–247
Curth HO, Warburton D (1965) The genetics of incontinentia pigmenti. Arch Dermatol 92:229–235
Daentl DL, Frias JL, Gilbert EF, Opitz JM (1979) The Johanson-Blizzard syndrome: case report and autopsy findings. Am J Med Genet 3:129–135
Dahl MV, Matula G, Leonards R, Tuffanelli DL (1976) Incontinentia pigmenti and defective neutrophil chemotaxis. Arch Dermatol 3:1603–1605
Davidson MB, Young RT (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. Diabetologica 11:561–568
Day D, Israel JN (1978) Johanson-Blizzard syndrome. Birth Defects, Vol XIV, 6B, pp 275–287
De Dulanto Campos C, Camacho-Martinez F (1979) Incontinentia pigmenti. Etude de 7 cas dont 2 males (Incontinentia pigmenti. Study of 7 cases, 2 in men-author's translation). Ann Dermatol Venerol 106:337–343
De Grouchy J, Bonnette J, Brussieux J, Roidot M, Begin P (1972) Cassures chromosomiques dans l'incontinentia pigmenti; étude d'une famille. Ann Génét 15:61–65
De Jong JGY, Delleman JW, Houben M, Manschot WA, De Minjer A, Mol J, Slooff JL (1976) Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Neurology 26:1152–1156
Dennis J, Bower BD (1972) The Aicardi syndrome. Dev Med Child Neurol 14:382–390
Desmons T, Walbaum R (1974) Sex-linked inherited skin-diseases. Dermatology-proceedings of XIV Int Congress Padua-Venice, May 22–27, 1972. Excerpta Med, Amsterdam New York
Dodge JA, Karnohan DC (1967) Oral-facial-digital syndrome. Arch Dis Child 42:214–219
Doege TC, Campbell MM, Bryant JS, Thuline HC (1968) Mental retardation and dermatoglyphics in a family with the oral-facialdigital syndrome. Am J Dis Child 116:615–622
Doege TC, Thuline HC, Priest JH, Norby DE, Bryant JS (1964) Studies of a family with the oral-facial-digital syndrome. N Engl J Med 271:1073–1080
Duca D, Ciovirnache M (1981) A previously unreported dominantly inherited syndrome of shortness of stature, ear malformations and hip dislocation: the Coxoauricular syndrome-autosomal or X-linked male-lethal. Am J Med Genet 8:173–180
Dunnigan MG, cochrane M, Kelly A, Scott JW (1974) Familial lipatrophic diabetes with dominant transmission. J Med 49:33–48
Edidin DV, Esterly NB, Bamzai AK, Fretzin DF (1977) Chondrodysplasia punctata. Arch Dermatol 113:1431–1434
Eisemann ML, Sharma GK (1979) The Wildervanck syndrome: cervicooculo-acoustic dysplasia. Otolaryngol Head Neck Surg 87:892–897
Emerit I, Levy A, Vaillaud JC, Vissian L (1977) Cassures chromosomiques dans l'incontinentia pigment. Ann Génét 20:56–58
Essig F (1970) Die Vererbung der Incontinentia Pigmenti (Bloch-Sulzberger)-Zur Frage X-chromosomaler Letalfaktoren beim Menschen. Med. Dissertation, Münster
Fariello RG, Chun RWN, Dor JM, Buncic JR, Prichard JS (1977) EEG recognition of Aicardi's syndrome. Arch Neurol 34:563–566
Fiechtl J, Cremer P, Köbberling J, Creutzfeldt W, Seidel D (1981) The genetic defect of the dominantly inherited type of lipatrophic diabetes. Diabetologica 21:79
Fjellner M (1979) Focal dermal hypoplasia in a 46,XY male. Int J Dermatol 18:813–815
Fjellner M, Weinstein LH (1978) Incontinentia pigmenti in a boy. Int J Dermatol 17:67–68
Franceschetti A, Jadasohn W (1954) A propos de l'incontinentia pigmenti délimination de deux syndromes différents figurant sous le même terme. Dermatologica 108:1
Franceschetti A, Jadasohn W, Paillard R (1961) Incontinentia pigmenti. Dermatologica 122:48–54
Freeman CD, Jr (1955) Congenital ectodermal dysplasia. Arch Dermatol 71:667
Fryns JP, Dhondt F, Lindemans L, van den Berghe H (1978) Focal dermal hypoplasia (Goltz syndrome) in a male. Acta Paediatr Belg 31:37–39
Fuhrmann W, Koch F, Schweckendiek W (1972) Autosomal dominante Vererbung von Gaumenspalte und Synechien zwischen Gaumen und Mundboden oder Zunge. Humangenetik 14:196–203
Fuhrmann W, Stahl A (1970) Zur Differentialdiagnose von Papillon-Leage-Psaume-Syndrom und Mohr-Syndrom. Humangenetik 9:54–63
Fuhrmann W, Stahl A, Schroeder TM (1966) Das orofaciodigitale Syndrom, zugleich eine Diskussion der Erbgänge mit geschlechts-begrenztem Letaleffekt. Humangenetik 2:133–164
Fuhrmann W, Vogel F (1960) Zur Genetik der Kombination von Lippen-Kiefer-Gaumen-Spalten und Syndaktylie. Monatsschr Kinderheilk 108:20–25
Gartler SM, Francke U (1975) Half chromatid mutations: transmission in humans? Am J Hum Genet 27:218–223
Gelehrter TD, Rosenberg LE (1975) Ornithine-transcarbamylase deficiency: unsuccessful therapy of neonatal hyperammonemia with n-carbamyl-l-glutamate and l-arginine. N Engl J Med 292:351–352
Goerttler F (1979) Chondrodysplasia Punctata Typ Conradi-Hünermann. Z Hautkr 54:676–677
Goltz RW, Henderson RR, Hitch JM, Ott JE (1970) Focal dermal hypoplasia syndrome: a review of the literature and report of two cases. Arch Dermatol 101:1–11
Goltz RW, Peterson WC, Gorlin RJ, Ravits HG (1962) Focal dermal hypoplasia. Arch Dermatol 86:708–717
Gordon H, Gordon W (1970) Incontinentia pigmenti: clinical and genetical studies of two familial cases. Dermatologica 140:150–168
Gorlin RJ (1973) Orofaciodigital syndrome I. In: Bergsma D (ed) Birth defects-Atlas and compendium. Williams and Wilkins, Baltimore
Gorlin RJ (1981) Cervico-oculo-acoustic dysplasia (Wildervanck syndrome). Handbook of Clinical Neurology, Vol 43, Vinken PJ, Bruyn GW. North Holland Publishing Company, Amsterdam New York Oxford, pp 343–344
Gorlin RJ, Knier J (1982) X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (Osteodysplasty) syndrome? A reappraisal (letter to the editor). Am J Med Genet 13:465–467
Gorlin RJ, Meskin LH, Peterson WC, Goltz RW (1963) Focal dermal hypoplasia syndrome. Acta Derm Venerol 43:421–440
Gorlin RJ, Psaume J (1962) Orodigitofacial dysostosis—a new syndrome. J Pediatr 61:520–530
Gottlieb JK, Fisher BK, Violin GA (1973) Focal dermal hypoplasia: A nine-year follow-up study. Arch Dermatol 108:551–553
Grand RJ, Rosen sW, di Sant'Agnese PA, Kirckham WR (1966) Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephal. Am J Med 41:478–485
Greist MC (1981) Focal dermal hypoplasia (Goltz syndrome). Handbook of Clinical Neurology, Vol 43, Vinken PJ, Bruyn GW. North Holland Publishing Company, Amsterdam New York Oxford, pp 19–20
Greist MC (1981) Incontinentia pigmenti (Bloch-Sulzberger syndrome). Handbook of Clinical Neurology, Vol 43, Vinken PJ, Bruyn GW. North Holland Publishing Company, Amsterdam New York Oxford, pp 22–24
Gustavson KH, Kreuger A, Peterson PO (1971) Syndrome characterized by lingual malformation, polydactyly, tachypnea and psychomotor retardation (Mohr syndrome). Clin Genet 2:261–266
Hadorn E (1955) Letalfaktoren in ihrer Bedeutung für Erbpathologie und Genphysiologie der Entwicklung. Thieme, Stuttgart
Happle R (1978) Genetische Interpretation streifenförmiger Hautanomalien. Der Hautarzt 29:357–363
Happle R (1980) X-gekoppelt dominante Chondrodysplasia Punctata. Monatsschr Kinderheilk 128:203–207
Happle R (1981) Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata. Clin Genet 19:64–66
Happle R (1979a) Skin markers of X-linked dominant chondrodysplasia punctata. Arch Dermatol 115:931
Happle R (1979b) X-linked dominant chondrodysplasia punctata: review of literature and report of a case. Hum Genet 53:65–73
Happle R (1979c) X-linked dominant ichthyosis. Clin Genet 15:239–240
Happle R, Kästner H (1979) X-gekoppelt domiaante Chondrodysplasia Punctata-ein osteokutanes Syndrom. Der Hautarzt 30:590–594
Happle R, Koch H, Lenz W (1980) The CHILD syndroms. Eur J Pediatr 134:27–33
Happle R, Kreuz J, Pfeiffer R (1976) Das Ito-Syndrom (Incontinentia pigmenti achromians). Der Hautarzt 27:286–290
Happle R, Lenz W (1977) Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? Br J Dermatol 96:133–138
Happle R, Matthias HH, Macher E (1977) Sex-linked chondrodysplasia punctata? Clin Genet 11:73–76
Harrod MJE, Stokes J, Peede LF, Goldstein JL (1976) Polycystic kidney disease in a patient with oral-facial-digital syndrome type I. Clin Genet 9:183–186
Hecht F, Kaiser-Hecht B, Austin WJ (1982) Incontinentia pigmenti in Arizona indians including transmission from mother to son inconsistent with the half chromatid mutation model. Clin Genet 21:293–296
Helin I, Jodak U (1981) A syndrome of congenital hypoplasia of the alae nasi, situs inversus and severe hypoproteinemia in two siblings. J Pediatr 932–934
Henson TE, Muller J, de Myer WE (1967) Hereditary myopathy limited to females. Arch Neurol 17:238–247
Herrin JT, McCredie DA (1969) Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonemia. Arch Dis Child 44:149–151
Heselson NG, Cremin BJ, Beighton P (1978) Lethal chondrodysplasia punctata. Clin Radiol 29:679–684
Heyck H, Laudahn G (1969) Die progressiv-dystrophen Myopathien. Springer, Berlin Heidelberg New York
Hokanson JT, O'Brien WE, Idemoto J, Schafer IA (1978) Carrier detection in ornithine-transcarbamylase deficiency. J Pediatr 93:75–78
Holden JD, Akers WA (1967) Goltz's syndrome: focal dermal hypoplasia; a combined mesoectodermal dysplasia. Am J Dis Child 114:143–148
Hopkins IJ, Conelly JF, Dawson AG, Hird FJR, Maddison TG (1969) Hyperammonemia due to ornithine-transcarbamylase deficiency. Arch Dis Child 44:143–148
Hopkins IJ, Humphrey I, Keith CG, Susman M, Webb GC, Turner EK (1979) The Aicardi syndrome in a 47,XXY male.
Hoyt CS (1981) Infantile spasms, chorioretinal anomalies and agenesis of the corpus callosum (Aicardi syndrome). Handbook of clinical neurology, vol 42, Vinken PJ, Bruyn GW. North Holland Publishing Company, Amsterdam New York Oxford, pp 696–697
Hunter AGW (1980) Aicardi syndrome in a male infant. Editorial correspondence. J Pediatr 97:1041–1042
Iancu T, Komlos L, Shabtay F, Elian E, Halbrecht I, Böök JA (1975) Incontinentia pigmenti. Clin Genet 7:103–110
Ishibashi A, Kurihara Y (1972) Goltz' syndrome: focal dermal dysplasia syndrome (focal dermal hypoplasia). Dermatologica 144:156–167
Jackson R, Nigam S (1962) Incontinentia pigmenti: A report of three cases in one family. Pediatrics 433–442
Jessen RT, van Epps DE, Goodwin JS, Bowerman J (1978) Incontinentia pigmenti; evidence for both neutrophil and lymphocyte dysfunction. Arch Dermatol 114:1182–1186
Johanson A, Blizzard R (1971) A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth and malabsorption. J Pediatr 79:982–987
Joosten R, Habedank M (1979) Sex-linked type of chondrodysplasia punctata due to a new mutation. Acta Paediatr Belg 32:275–278
Karch D, Kiekens R, Mortier W (1980) BNS-Anfallsleiden und Aicardi-Syndrom. Monatsschr Kinderheilk 128:378–379
Kelly T, Rary JM, Joung L (1976) Incontinentia pigmenti: a chromosomal breakage syndrome. J Hered 67:171–172
Kirkham TH (1969) Duane's syndrome and familial perceptive deafness. Br J Ophthalmol 53:335–339
Kirkham TH (1969) Cervico-oculo-acusticus syndrome with pseudopapilloedema. Arch Dis Child 44:504–508
Köbberling J, Willms B, Kattermann R, Creutzfeldt W (1975) Lipodystrophy of the extremeities. A dominantly inherited syndrome associated with lipatrophic diabetes. Humangenetik 29:111–120
Knockaert D, Dequeker J (1979) Osteopathia striata and focal dermal hypoplasia. Skeletal Radiol 4:223–227
Konigsmark BW, Gorlin RJ (1976a) Aplasia of nasal alae, hypothyroidism growth retardation, malabsorption due to proteolytic and lipolytic deficiency, absent permanent teeth and sensorineural deafness. Genetic and Metabolic Deafness. Saunders, Philadelphia, pp 339–341
Konigsmark BW, Gorlin RJ (1976b) Klippel-Feil anomalad and abducens paralysis with retracted bulb and sensorineural or conductive deafness (Wildervanck syndrome cervico-oculoacoustic dysplasia). Genetic and Metabolic Deafness. Saunders, Philadelphia, pp 188–191
Küster F, Olbing H (1964) Incontinentia pigmenti. Bericht über neun Erkrankungen in einer Familie und einen Obduktionsbefund. Ann Paediatr 202:92–100
Kunze J, Frenzel UH, Hüttig E, Grosse FR, Wiedemann HR (1977) Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger. Hum Genet 35:237–240
Kunze J, Heyne K, Wiedemann HR (1979) Diaphragmatic hernia in a female with focal dermal hypoplasia and marked asymmetric malformations. Eur J Pediatr 131:213–218
Kushnik T, Massa TP, Baukema R (1963) Orofaciodigital syndrome in a male-case report. J Pediatr 63:1130–1134
Larrègue M, Michel Y, Maroteaux J, Degos R, Stewart WM (1971) L'hypoplasie dermique en aires; considérations sur l'ostéopathie striée et sur le problème génétique. Ann Dermatol Syph 98:491–500
Leiber B, Olbrich G (1972) Die klinischen Syndrome, 5. Aufl. Urban und Schwarzenberg
Leiber B, Olbrich G (1972) Das neue Syndrom: Goltz-Gorlin-Syndrom. Monatsschr Kinderheilk 120:395–399
Lenz W (1961 a) Zur Genetik der Incontinentia pigmenti. Ann Paediatr 196:149–165
Lenz W (1961 b) Medizinische Genetik. Eine Einführung in ihre Grundlagen und Probleme. Thieme, Stuttgart, pp 89
Lenz W (1975) Half chromatid mutations may explain incontinentia pigmenti in males. Am J Hum Genet 27:690–691
Lenz W, Ullrich E, Witkowski R, Opitz Ch (1982) Halbseitige Incontinentia pigmenti bei einem Mann. Paediatr Paedol 17:187–199
Levin B, Abraham LM, Oberholzer VG, Burgess EA (1969) Hyperammonemia: a deficiency of liver ornithine-transcarbamylase; occurrence in mother and child. Arch Dis Child 44:152–161
Levin B, Dobbs RH, Burgess EA, Palmer T (1969) Hyperammonemia. A variant type of deficiency of liver ornithine-transcarbamylase. Arch Dis Child 44:162–168
Levy EP, Fletcher BD, Fraser FC (1974) Mohr syndrome with subclinical expression of the bifid great toe. Am J Dis Child 128:531–533
Lyon MF (1962) Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 14:135–148
Lyon MF (1971) Possible mechanisms of X-chromosome inactivation. Nature 232:229–232
Mandell F, Ogra PL, Horowitz SL, Hirschhorn K (1967) Oral-facialdigital syndrome in a chromosomally normal male. Pediatrics 40:63–68
Manzke H, Christophers E, Wiedemann HR (1980) Dominant sex-linked inherited chondrodysplasia punctata: a different type of chondrodysplasia punctata. Clin Genet 17:97–107
Mardini MK, Ghandour M, Sakati NA, Nyhan WL (1978) Johanson-Blizzard syndrome in a large inbred kindred with three involved members. Clin Genet 14:247–250
Matsuda I, Shinichiro A, Nambu H, Takekoshi J, Anakura M (1971) Hyperammonemia due to a mutant enzyme of ornithine-transcarbamylase. Pediatrics 48:595–599
McKusick VA (1978) Mendelian inheritance in man, fifth edition. John Hopkins University Press, Baltimore London
Melnick JC, Needles CF (1966) An undiagnosed bone dysplasia. A two family study of four generations and three generations. Am J Roentgenol 97:39–48
Melnick M (1981) Orofaciodigital syndrome type I (OFD I syndrome). Handbook of Clinical Neurology, Vol 43, Vinken PJ, Bruyn GW. North Holland Publishing Company, Amsterdam New York Oxford, pp 447–449
Melnick M, Shields ED (1975) Orofaciodigital syndrome type I: a phenotypic and genetic analysis. Oral Surg 40:599–610
Mery JPh, Simon P, Honitte H, Tanquerel T, Toulet R, Kanfer A (1978) A propos de deux observations de maladie polycystique rénale de l'adulte associée au syndrome oral-facial-digital. Soc Nephrol 892–893
Michel Y (1971) Hypoplasie dermique en aires avec polydystrophies ecto-mesodermiques. Med. Dissertation, Rouen
Morgan JD (1971) Incontinentia pigment. Am J Dis Child 122:294–300
Morris MD, Fisher DA (1967) Trypsinogen deficiency disease. Am J Dis Child 114:203–208
Musumeci E, Baciocco A, Borogi C, Calderazzo L, Calvani M (1981) Sindrome di Aicardi con deficit dell'immunita cellulo-mediata. Min Ped 33:95–99
Müller C (1974) Incontinentia pigmenti Bloch-Sulzberger. Zschr Hautkr 49:487
Naegeli O (1927) Familiärer Chromatophorennaevus. Schweiz Med Wochenschr 57:48
Norum RA, Brill PW, Klass PC, Levine LS (1977) Chondrodysplasia punctata, dominant type with peripheral cataracts. Birth Defects 13/3c:244–245
Ogawa H, Miyazaki H, Ikeya T, Masutani M, Taneda A (1976) Presence of anti-cytoplasmatic antibodies in a case of incontinentia pigmenti. J Dermatol (Tokyo) 2:93–97
Opitz JM, Kaveggia EG (1974) Studies of malformation syndromes of man; XXXIII — The FG syndrome; an X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Zschr Kinderheilk 117:1–18
Pallisgaard G (1969) Incontinentia pigmenti in a newborn boy. Acta Dermatol Venereol 49:197–201
Papillon-Léage M, Psaume J (1954) Une malformation héréditaire de la muquese buccale: Brides et freins anomaux. Rev Stomatol 55:209–227
Papillon-Léage M, Psaume J (1954) Une nouvelle malformation hereditaire dysmorphie des freins buccaux: huit observations. Actual Odonto Stomatol 25:7
Park IJ, Johanson A, Jones HW, Blizzard R (1972) Special female hermaphroditism associated with multiple disorders. Obstet Gynecol 39:100–106
Patau K, Therman E, Inhorn S, Smith DW, Ruess AL (1961) Partialtrisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter. Chromosoma (Berlin) 12:573–584
Pfeiffer RA (1960) Zur Frage der Vererbung der Incontinentia pigmenti Bloch-Siemens. Z Menschl Vererb Konstitutions 35:469–493
Pfeiffer RA, Happle R, Stupperich G (1976) Das syndrom von Ito (Incontinentia pigmenti achromians). Klin Paediatr 188: 181–185
Reed WB, Carter C, Cohen TM (1967) Incontinentia pigmenti. Dermatologica 134:243–250
Reichart P, Flatz S, Burdelski M (1979) Ektodermale Dysplasie und exokrine Pankreasinsuffizienz — ein erblich bedingtes Syndrom (ectodermal dysplasia and exocrine pancreatic insufficiency — a familial syndrome). Dtsch Zahnärztl Z 34:263–265
Reinwein H, Schilli W, Ritter H, Brehme H, Wolf U (1966) Untersuchungen an einer Familie mit Oral-facial-digital-Syndrom. Humangenetik 2:165–177
Reisner SH, Kott E, Bornstein B, Salinger H, Kaplan I, Gorlin RJ (1969) Oculodentodigital dysplasia. Am J Dis Child 118:600–607
Ricciuti FC, Gelehrter TD, Rosenberg LE (1976) X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase. Am J Hum Genet 28:332–338
Rimoin DL, Edgerton MT (1967) Genetic and clinical heterogeneity in the oral-facial-digital syndromes. J Pediatr 71:94–102
Rodermund OE, Hansmann D (1977) Kasuistischer Beitrag zum Goltz-Gorlin-Syndrom. Der Hautarzt 28:37–39
Ropers HH, Zuffardi O, Bianchi E, Tiepolo L (1982) Agenesis of corpus callosum, ocular and skeletal anomalies (X-linked dominant Aicardi syndrome) in a girl with balanced X/3 translocation. Hum Genet (in press)
Ruess AL, Pruzansky S, Lis EF, Patau K (1962) The oral-facial-digital syndrome: a multiple congenital condition of females with associated chromosomal abnormalities. Pediatrics 29:985–995
Ruiz-Maldonado R, Carnevale A, Tamayo L, Milonas de Montiel E (1974) Focal dermal hypoplasia. Clin Genet 6:36–45
Russell A, Levin B, Oberholzer UG, Sinclair L (1962) Hyperammonemia, a new instance of an inborn enzymatic defect of the biosynthesis of urea. Lancet II:699
Salmon D, Glatt P, Raspiller A, Remy A (1979) Syndrome de Wildervanck et rubéole congénitale. Rev Otoneuroophthalmol 51:173–177
Schamburg-Lever G, Lever WF (1973) Electron microscopy of incontinentia pigmenti. J Invest Dermatol 61:151–158
Schneidrov'a L (1978) Das Goltz-Gorlin-Syndrom (the Goltz-Gorlin syndrome). Dermatol Monatsschr 163:706–710
Schussheim A, Choi SJ, Silverberg M (1976) Exocrine pancreatic insufficiency with congenital anomalies. J Pediatr 89:782–783
Scott CI (1971a) Chondrodystrophia calcificans congenita (Conradi's disease)with cutaneous changes. Birth Defects 7/8:309
Scott C (1971b) Addendum to Spranger JW, Opitz JM, Bidder U: Heterogeneity of chondrodysplasia punctata. Humangenetik 11:190–212
Scott CR, Chiang-Teng C, Goodman S, Greensher A, Mace JW (1972) X-linked transmission of ornithine-transcarbamylase deficiency. Lancet II:1148
Shaw M, Gilkes JJH, Mally FF (1981) Oral-facial-digital syndrome, case report and review of the literature. Br J Oral Surg 19:142–147
Shih VE (1978) Ornithine-carbamyl-transferase deficiency. The Metabolic Basis of Inherited Disease, fourth ed, Stanbury JB, Wyngaarden JB, Fredrickson DS. McGraw-Hill Book Company; a Blakiston Publication, pp 368–371
Shih VE, Efron ML, Moser HW (1969) Hyperornithinemia, hyperammonemia and homocitrullinuria; a new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. Am J Dis Child 117:83–92
Short EM, Conn HO, Snodgrass PJ, Campbell AGM, Rosenberg LE (1973) Evidence for X-linked dominant inheritance of ornithine-transcarbamylase deficiency. N Engl J Med 288:7–12
Shotts M, Emery AEH (1966) Bloch-Sulzberger syndrome (incontinentia pigmenti). J Med Genet 3:148–152
Siemens H, Schneider H, Dening D, Hanefeld F (1979) Drei Schwestern mit Enzephalitiden in einer Familie mit Bloch-Sulzberger-Syndrom. Monatsschr Kinderheilk 127:321–323
Snyderman SE, Sansaricq C, Phansalkar SV, Schact RG, Norton PM (1975) The therapy of hyperammonemia due to ornithine-transcarbamylase deficiency in a male neonate. Pediatrics 56:65–72
Solomon LM, Fretzin D, Pruzansky S (1970) Pilosebaceus dysplasia in the oral-facial-digital syndrome. Arch Dermatol 102:598–602
Songkang E, Snodgrass PJ, Gerald PS (1973) Ornithine-transcarbamylase deficiency in the newborn infant. J Pediatr 82:642–649
Spranger JW, Opitz JM, Bidder U (1971) Heterogeneity of chondrodysplasia punctata. Hum Genet 11:190–212
Sulzberger MB (1927) Über eine bisher nicht beschriebene congenitale Pigmentanomalie (Incontinentia pigmenti). Arch Dermatol Syph (Berlin) 154:19–32
Sundhausen G (1971) Die Klinik der fokalen dermalen Hypoplasie. Med. Dissertation, Mainz
Sunshine P, Lindenbaum JE, Levy HL, Freeman JM (1972) Hyperammonemia due to a defect in hepatic ornithine transcarbamylase. Pediatrics 50:100–110
Tentamy S, McKusick VA (1978) The Genetics of Hand Malformations. Birth Defects XIV:3
Ter Haar B, Hamel B, Hendriks J, de Jager J (1982) Melnick-Needles syndrome: indication for an autosomal recessive form. Am J Med Genet 13:469–477
Thaler MM, Hoogenraad NJ, Boswell M (1974) Reye's syndrome due to a novel protein-tolerant variant of ornithine-transcarbamylase deficiency. Lancet II:438–440
Theander G, Ekberg O (1981) Congenital malformations associated with maternal osteodysplasty. Acta Radiol 22:369–377
Thomas JV, Yoshizumi MO, Beyer CH, Craft JL, Albert DM (1978) Ocular manifestations of focal dermal hypoplasia syndrome. Arch Opthalmol 95:1997–2001
Toro-Sola MA, Kistenmacher ML, Punnett HH, di George AM (1975) Focal dermal hypoplasia syndrome in a male. Clin Genet 7:325–327
Townes PL (1969) Proteolytic and lipolytic deficiency of the exocrine pancreas. J Pediatr 75:221–228
Townes PL, White MR (1981) Identity of two syndromes. Proteolytic, lipolytic and amylolytic deficiency of the exocrine pancreas with congenital anomalies. Am J Dis Child 135:248–250
Tucker CC, Finley SC, Tucker ES, Finley WH (1966) Oral-facial-digital syndrome with polycystic kidneys and liver: pathological and cytogenetic studies. J Med Genet 3:145–147
Vakilzadeh F, Happle R (1976) Fokale dermale Hypoplasie mit apokrinen Naevi and streifenförmiger Anomalie der Knochen. Arch Dermatol Res 256:189–195
Valerius NH (1974) A case of focal dermal hypoplasia syndrome (Goltz) with bilateral cheil-gnatho-palatoschisis. Acta Paediatr Scand 63:287–288
Vissian L, Vaillaud JC (1972) La syndrome oro-facio-digital. Ann Dermatol Syph (Paris) 99:5–20
Vissian L, Vaillaud JC Kermorec J, Daniel R (1974) Incontinentia pigmenti: electron microscopy study and genetic problems. Dermatology proceedings of XIV Int Congress Padua-Venice, May 22–27, 1972. Excerpta Med, Amsterdam New York
Vogel F (1961) Lehrbuch der allgemeinen Humangenetik. Springer, Berlin Heidelberg New York
Vogel F, Dorn H (1964) Krankheiten der Haut und ihrer Anhangsgebilde. Dystrophien; Incontinentia pigmenti (Bloch-Sulzberger). Becker PE, Handbuch der Humangenetik, Vol IV. Thieme, Stuttgart, pp 469–475 (346–535)
Vogel F, Rathenberg R (1975) Spontaneous mutation in man. In: Harris H, Hirschhorn K (eds) Advances in Human Genetics, Vol 5. Plenum Press, New York London, pp 232–233; 237–238 (223–305)
Vogel F, Motulsky AG (1979) Human Genetics; Problems and Approaches. Springer, Berlin Heidelberg New York, pp 309–311
Von Oyen P, Holmes LB, Trelstad RL, Griscom NTH (1982) Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). Am J Med Genet 13:453–463
Waardenburg PJ, Franceschetti A, Klein D (1961) Types of congenital and early infantile cataract. Genetics and Ophthalmology; Royal van Gorcum Publisher Assen; Netherlands; Charles C Thomas, I: 851–888
Wahrmann J, Berant M, Jacobs J, Aviad I, Ben-Hur N (1966) The oralfacial-digital syndrome: a male lethal condition in a boy with 47,XXY chromosomes. Pediatrics 37:812–821
Walbaum R, Samaille G, Dehaene P (1970) Syndrome de Goltz chez un garçon. Pédiatrie 25:911–920
Wallace DC, Exton LA, Pritchard DA, Leung Y, Cooke RA (1970) Severe achondroplasia; demonstration of probable heterogeneity within this clinical syndrome. J Med Genet 7:22–26
Warburg M (1970) Focal dermal hypoplasia; ocular and general manifestations with a survey of the literature. Acta Ophthalmol 48:525–536
Whelan DT, Feldman W, Dost I (1975) The oro-facio-digital syndrome. Clin Genet 8:205–212
Wildervanck LS (1960) Een cervico-oculo-acusticus syndroom. Med Tijdschr Geneeskd 104:2600–2605
Wildervanck LS (1978) The cervico-oculo-acusticus syndrome. Handbook of Clinical Neurology, Vol 32, Vinken PJ, Bruyn GW (eds). North Holland Publishing Company, Amsterdam New York Oxford, pp 123–130
Wiklund DA, Weston WL (1980) Incontinentia pigmenti. Arch Dermatol 116:701–703
Wiley HE, Frias JL (1974) Depigmented lesions in incontinentia pigmenti; a useful diagnostic sign. Am J Dis Child 128:546–547
Wilkin J (1976) Incontinentia pigmenti; letters to the editor. Arch Dermatol 112:729
Willis J, Rosman NP (1980) The Aicardi syndrome versus congenital infection: diagnostic considerations. J Pediatr 96:235–239
Witkop-Oostenrijk GA (1956) Microphthalmus, microcornea, en aangeboren cataract. Ned Tijdschr Geneeskd 100:2910–2913
Wodniansky P (1957) Über die Formen der congenitalen Poikilodermie. Arch Klin Exp Dermatol 205:331–342
Wolf M, Kopf AW, Andrade R (1964) Incontinentia pigmenti. Arch Dermatol 90:362–364
Yokoi T, Honke K, Funabashi T, hyashi R, Suzuki Y, Taniguchi N, Hosoya M, Saheki T (1981) Partial ornithine transcarbamylase deficiency simulating Reye syndrome. J Pediatr 99:929–931
Zala L, Ettlin Ch, Krebs A (1975) Fokale dermale Hypoplasie mit Keratokonus, Ösophaguspapillomen und Hidrokystomen. Dermatologica 150:176–185