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. [].

Keywords :

• anophthalmia
• microphthalmia
• cleft lip
• cleft palate
• cirrhosis of liver
• lymphangiectasia
• ciliopathy