MODED: Microcephaly-oculo-digito-esophageal-duodenal syndrome

We report on 4 families with microcephaly, type A brachydactyly, variable learning disabilities, short stature, duodenal atresia, patent ductus arteriosus (PDA), hallux valgus, restricted elbow and finger movements, and amesophalangy and syndactyly of toes. Three previous families manifested all sig...

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Veröffentlicht in:	American journal of medical genetics 1997-08, Vol.71 (3), p.251-257
Hauptverfasser:	Frydman, Moshe, Katz, Miriam, Cabot, Susan G., Soen, Galia, Kauschansky, Arie, Sirota, Lea
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adult autosomal-dominant inheritance Biological and medical sciences brachydactyly brachymesophalangy Child Child, Preschool Complex syndromes congenital heart disease deafness duodenal atresia Duodenum - abnormalities Esophageal Atresia - genetics Female Fingers - abnormalities Humans Hypertelorism - genetics Infant Infant, Newborn learning disabilities Learning Disorders - genetics Male Medical genetics Medical sciences mental retardation microcephaly Microcephaly - genetics Pedigree Phenotype short stature short toes Syndrome Toes - abnormalities
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