Short rib polydactyly syndrome IV type Yang

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Classification according to ICD-10
Q77.2 Short rib polydactyly syndromes
ICD-10 online (WHO version 2019)

The Yang type is a special form of congenital hereditary osteochondrodysplasia with a lethal course and belongs to the short-rib polydactyly syndromes characterized by short ribs and underdeveloped lungs.

Apparently it is a special form of Beemer-Langer syndrome, but with polydactyly .

It was first described in 1991 by SS Yang and co-workers.

literature

  • J. Spranger, P. Maroteaux: The lethal osteochondrodysplasias. In: Advances in human genetics. Vol. 19, 1990, pp. 1-103, 331, ISSN  0065-275X , PMID 2193487 (review).
  • JW Spranger: Bone Dysplasias. Urban & Fischer 2002, ISBN 3-437-21430-6 .
  • NS den Hollander, HJ van der Harten, JA Laudy, P. van de Weg, JW Wladimiroff: Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases. In: Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 11, No. 4, April 1998, ISSN  0960-7692 , pp. 298-302, doi : 10.1046 / j.1469-0705.1998.11040298.x , PMID 9618859 .

Individual evidence

  1. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ^ SS Yang, JA Roth, LO Langer: Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome. In: American journal of medical genetics. Vol. 39, No. 3, June 1991, ISSN  0148-7299 , pp. 243-246, doi : 10.1002 / ajmg.1320390302 , PMID 1867272 .