Hemifacial microsomia and abnormal chromosome 22.
We report on partial dup(22q), growth deficiency, and the facioauriculovertebral sequence including hemifacial microsomia, cleft lip and palate, preauricular tags, and hearing loss in one patient. No endocrine or systemic cause for growth deficiency was identified. The case illustrates applicability of chromosome analysis in syndrome-associated growth failure, and a previously unreported associated chromosome abnormality.
Hathout
E H
EH
Department of Pediatrics, Loma Linda University School of Medicine and Children's Hospital, California 92354, USA.
Elmendorf
E
E
Bartley
J
J
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005146:Facial Asymmetry / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D008297:Male