Clinical variability in acro‐cardio‐facial‐syndrome

We report on a 25‐year‐old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro‐cardio‐facial syndrome. © 2008 Wiley‐Liss, Inc....

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-08, Vol.146A (15), p.1977-1979
Main Authors: Kariminejad, Ariana, Bozorgmehr, Bita, Sedighi Gilani, Mohammad Ali, Almadani, Navid, Kariminejad, Mohamad Hasan
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adult
Anus, Imperforate - genetics
autosomal recessive
Biological and medical sciences
Chromosome Banding
Consanguinity
ectrodactyly
Ectromelia - genetics
Female
genital anomalies
Genitalia, Male - abnormalities
Hand Deformities, Congenital - genetics
Humans
Hypospadias - genetics
Infant, Newborn
Male
Medical genetics
Medical sciences
Syndrome
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Summary:We report on a 25‐year‐old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro‐cardio‐facial syndrome. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32052