Autosomal recessive transmission of neuroectodermal syndrome

Zunich, Janice

doi:10.1001/archderm.124.8.1188

Cited by 7 publications

(9 citation statements)

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“…While bilateral coloboma, deafness, and cleft palate are typical of Zunich neuroectodermal syndrome [Zunich et al, 1988], its autosomal recessive inheritance and severe neurological involvement with early-onset migratory ichthyosiform dermatosis distinguish it from the manifestations observed in this family. Another likely autosomal recessive disorder with coloboma, deafness, as well as severe developmental delay and upper limb defects appears to be a distinct entity [Ward et al, 1992].…”

Section: Discussionmentioning

confidence: 79%

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

et al. 1997

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Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression is evident and more recently recognized manifestations include a complete spectrum of eye involvement, impairment of extraocular movement, mid-frequency sensorineural hearing loss, and hematuria. Learning difficulties requiring remedial teaching were present in one third of those affected and a neural tube defect has occurred in one presumed affected member. This family appears to present a unique phenotype, which provides an opportunity to identify a genetic locus involved in eye, ear, renal, primary palate, and brain development.

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Section: Discussionmentioning

confidence: 79%

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

et al. 1997

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“…Only three patients, of both sexes including siblings, have been reported to date (1)(2)(3)(4). Zunich et al (4) mentioned another patient of Amish descent known to them by personal communication. Because ofthe affected siblings, autosomal recessive inheritance has been assumed.…”

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confidence: 99%

Zunich Neuroectodermal Syndrome: Migratory Ichthyosiform Dermatosis, Colobomas, and Other Abnormalities

Tinschert¹,

Anton‐Lamprecht

Albrecht-Nebe³

et al. 1996

Pediatric Dermatology

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We report a 21-month-old girl with symptoms consistent with the Zunich neuroectodermal syndrome, an apparently rare condition first described in 1983. Common features of all previously reported patients as well as in this child are characteristic craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. Light microscopic and ultrastructural investigations of the affected skin showed characteristic but nonspecific changes. The structural hair shaft abnormalities as well as the dysplastic nails in our patient have not been described before and are consistent with the previous assumption of an ectodermal dysplasia syndrome.

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“…To date at least seven clinical conditions can be enumerated, among which two have autosomal dominant transmission [Hussels, 1971;Kingston et al, 1982;Ravine et al, 1997], four are autosomal recessive [Anyane-Yeboa et al, 1983;Baraitser et al, 1982;Fryns et al, 1997;Zunich et al, 1988], and one is X-linked recessive [Abruzzo and Erickson, 1997].…”

Section: Discussionmentioning

confidence: 99%

New case of the Richieri-Costa/Guion-Almeida syndrome

et al. 1999

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We describe a boy with multiple congenital anomalies/mental retardation (MCA/MR) syndrome. He has growth retardation, microbrachycephaly, coloboma of the iris, and typical facial anomalies including cleft lip/palate. This phenotype overlaps with that described by Richieri-Costa and Guion-Almeida in three Brazilian brothers. The new patient provides further evidence of the existence of this rare clinical entity.

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Autosomal recessive transmission of neuroectodermal syndrome

Cited by 7 publications

References 0 publications

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

Zunich Neuroectodermal Syndrome: Migratory Ichthyosiform Dermatosis, Colobomas, and Other Abnormalities

New case of the Richieri-Costa/Guion-Almeida syndrome

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