Abstract

HUERTAS, Erasmo; INGAR, Jaime; GUTIERREZ, Guiselle  and  QUINONES, Eva María. Short rib polydactyly syndrome: lethal skeletal dysplasia. An. Fac. med. [online]. 2010, vol.71, n.1, pp.46-46. ISSN 1025-5583.

Short rib-polydactyly syndrome is a descriptive category for a group of lethal skeletal dysplasias characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. The 4 established variants are SRPS I (Saldino-Noonan type), SRPS II (Majewski type; 263520), SRPS III (Verma-Naumoff type; 263510), and SRPS IV (Beemer-Langer type; 269860). All variants are thought to be inherited in autosomal recessive pattern. Because of the frequent phenotype overlap there is controversy as to whether the variants are due to variable expression or to genetic heterogeneity. We present a case of a male fetus, with typical ultrasound markers of skeletal dysplasia such as micromelia, bell shaped narrow thorax, hypertelorism, low implantation ears and polidactily who was born by vaginal delivery and died two days later due to respiratory insufficiency present since birth.

Keywords : Short rib-polydactyly syndrome; bone diseases, developmental; ultrasonography.

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