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Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems.

Abstract：

:We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in addition a partial cutaneous syndactyly between the third and fourth fingers, an increased distance between second and third finger, and a decreased smell. We have not been unable to find other patients described in literature with the same combination of features, and suggest this to represent a hitherto unrecognizable entity. Pattern of inheritance is likely to be autosomal dominant.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Belligni EF,Hennekam RC

doi

10.1016/j.ejmg.2010.03.009

subject

Has Abstract

pub_date

2010-07-01 00:00:00

pages

192-6

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(10)00034-0

journal_volume

53

pub_type

杂志文章

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