The Coffin-Siris syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 2352263.
- Also identified by PMC identifier 1017087.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.
Medical subject headings
- Foot Deformities, Congenital
- Hair
- Hand Deformities, Congenital