We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna
Multiple congenital anomalies syndrome: Growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients
β Scribed by Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Richieri-Costa, Antonio
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 39 KB
- Volume
- 87
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19991105)87:1<72::aid-ajmg15>3.0.co;2-7
No coin nor oath required. For personal study only.
β¦ Synopsis
We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, telecanthus, cleft palate, preauricular skin tags/ pit, camptodactyly, and foot anomalies. To our knowledge, this is a previously undescribed formal genesis syndrome.
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We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the exter
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