Details

Autor(en) / Beteiligte

• Levy, J.
• Chung, W.
• Garzon, M.
• Gallagher, M.P.
• Oberfield, S.E.
• Lieber, E.
• Anyane-Yeboa, K.

Titel

Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome?

Ist Teil von

• American journal of medical genetics. Part A, 2003-01, Vol.116A (1), p.20-25

Ort / Verlag

New York: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2003

Quelle

Wiley Online Library All Journals

Beschreibungen/Notizen

• We describe three siblings with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The parents are not consanguineous and there are no other affected relatives. This new syndrome, which follows an apparent autosomal recessive pattern, appears to be distinct from known syndromes of secretory diarrhea, myopathy, deafness, microcephaly, and zinc deficiency. © 2003 Wiley‐Liss, Inc.