Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation.
We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognathia, short limbs, lung hypoplasia, absent or hypoplastic gallbladder, short intestine with ileal distention, hypoplastic uterus, and intrauterine growth retardation. This combination of defects appears to be a newly recognized and probably autosomal recessive disorder.
Department of Pediatrics, University of Michigan, Ann Arbor 48109, USA.
M
M
Barr
K P
KP
Heidelberger
C H
CH
Comstock
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics*; D000328:Adult; D003398:Craniosynostoses / Q000145:classification / Q000196:embryology / Q000235:genetics*; D004065:Digestive System Abnormalities; D005121:Extremities; D005145:Face / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D006849:Hydrocephalus / Q000196:embryology / Q000235:genetics; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D011247:Pregnancy; D013577:Syndrome