title: An/micr-ophthalmia, cleft lip/palate, and short limbs: a new syndrome simulating a short rib syndrome.
abstract: We report on a male infant born at 38 weeks of gestation with hydrocephalus, right anophthalmia, left microphthalmia, cleft palate, midline cleft of lip, and microphallus. Autopsy showed pulmonary bronchial lymphangiectasia, hepatic periportal fibrosis, adrenal agenesis, ventricular septal defect, aortic stenosis, and undescended testes. The radiographic findings include short limbs and mild shortness of ribs. Karyotype with high-resolution banding was normal (46,XY). The combination of anomalies in this case could suggest a ciliopathy and may represent a new entity similar to that described by Cideciyan et al. [1].
authors.affiliation: Kariminejad Najmabadi Pathology and Genetic Center, Tehran, Iran. arianakariminejad@yahoo.com
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
authors.forename: Siavash
authors.initials: S
authors.lastname: Ghaderi-Sohi
authors.forename: Mohammad Hassan
authors.initials: MH
authors.lastname: Kariminejad
authors.forename: Ralph
authors.initials: R
authors.lastname: Lachman
mesh_terms: D000015:Abnormalities, Multiple; D000853:Anophthalmos / Q000175:diagnosis / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities; D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005865:Gestational Age; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis* / Q000235:genetics; D009056:Mouth Abnormalities / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D010413:Penis / Q000002:abnormalities; D012779:Short Rib-Polydactyly Syndrome / Q000175:diagnosis*; D013577:Syndrome