Short rib polydactyly syndrome: lethal skeletal dysplasia

Authors

  • Erasmo Huertas 1 Instituto Nacional Materno Perinatal. Lima, Perú. 2 Facultad de Medicina, Universidad Nacional Mayor de San Marcos. Lima, Perú.
  • Jaime Íngar 1 Instituto Nacional Materno Perinatal. Lima, Perú. 2 Facultad de Medicina, Universidad Particular San Martín de Porres. Lima, Perú.
  • Guiselle Gutiérrez 1 Instituto Nacional Materno Perinatal. Lima, Perú. 2 Facultad de Medicina, Universidad Nacional Mayor de San Marcos. Lima, Perú.
  • Eva María Quiñones Facultad de Medicina, Universidad Particular San Martín de Porres. Lima, Perú.

DOI:

https://doi.org/10.15381/anales.v71i1.71

Keywords:

Short rib-polydactyly syndrome, bone diseases, developmental, ultrasonography.

Abstract

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.

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Published

2010-03-15

Issue

Vol. 71 No. 1 (2010)

Section

Casos clínicos

License

Copyright (c) 2010 Erasmo Huertas, Jaime Íngar, Guiselle Gutiérrez, Eva María Quiñones

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How to Cite

1.
Huertas E, Íngar J, Gutiérrez G, Quiñones EM. Short rib polydactyly syndrome: lethal skeletal dysplasia. An Fac med [Internet]. 2010 Mar. 15 [cited 2025 Jun. 6];71(1):47-50. Available from: https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/71