Prenatal Sonographic Appearance and Subsequent Management of a Fetus with Oromandibular Limb Hypogenesis Syndrome Associated with Pulmonary Hypoplasia

Skeletal abnormalities are found in a large number of syndromes including facial/skeletal defects, skeletal dysplasias, and connective tissue, muscle, and metabolic disorders.1 Skeletal malformations associated with aglossia were first described by Rosenthal.2 Recently, Kaplan et al. have emphasized a spectrum of skeletal disorders and have suggested some common elements in proposed modes of developmental pathology.3 We present a case of the oromandibular limb hypogenesis syndrome (OLHS) with the associated prenatal sonographic findings.