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July 1982

Picture of the Month

Am J Dis Child. 1982;136(7):639-640. doi:10.1001/archpedi.1982.03970430071021

Denouement and Discussion 

Short-Rib Polydactyly Dwarfism: Saldino-Noonan Type 

Manifestations  The consistent anomalies present in the Saldino-Noonan type of short rib polydactyly dwarfism are hydropic appearance at birth, micromelia, polydactyly, and a narrow thorax. Growth retardation, small weight for gestational age, and decrease in heel-crown length are often present. The characteristic skeletal deformities include short, horizontally-oriented ribs, short tubular bones with metaphyseal dysplasia, small iliac bones, horizontal acetabulae, and premature ossification of epiphyses.Pulmonary hypoplasia is the most common visceral anomaly and next in frequency are anomalies associated with the gastrointestinal tract, which include persistent cloaca, imperforate anus, atresia and/or malrotation of the bowel, and short bowel. Cardiovascular anomalies include transposition, coarctation of the aorta, ventricular septal defects, double-outlet left ventricle, and hypoplastic aortic arch. Renal and genital anomalies are seen less frequently.Based on skeletal criteria, short-rib polydactyly dwarfism has been classified into two distinct types: the Majewski type and

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