Beemer-Langer Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q77.2 | Short rib polydactyly syndromes |
| ICD-10 online (WHO version 2019) | |
The Beemer-Langer syndrome or short rib polydactyly syndrome type 4 is a special form of congenital hereditary osteochondrodysplasias with a lethal course and belongs to the short rib polydactyly syndromes , characterized by short ribs and an underdeveloped lung .
Synonyms are:
- Short rib polydactyly syndrome Beemer type
- Beemer's Syndrome
- Short-rip Thoracic Dysplasia 12; SRTD12
- Short rib-Polydactyly Syndrome, Type IV; SRPS4; SRPS IV
The first description was in 1983 by the Dutch geneticist Fredericus Antonius Beemer and the US radiologist Leonard O. Langer .
distribution
The frequency of this group of diseases is not known; the inheritance is autosomal - recessive .
Clinical manifestations
Common features of all short rib polydactyly syndromes are:
- Short ribs with thoracic - hypoplasia , pulmonary and respiratory failure
- Shortening and dysplasia of long bones.
Polydactyly is only occasionally found in this type , associated with cleft lip, heart defects such as DORV , malrotation , micropenis , kidney hypoplasia . In addition to brachydactyly , ear malformations, omphalocele come.
diagnosis
The x-ray shows changes similar to those in Majewski's syndrome , but the tibia is better developed. There is no hexadactyly available for differentiation , a very rare form overall.
A diagnosis by sonography in the womb is possible.
literature
- J. Spranger, P. Maroteaux: The lethal osteochondrodysplasias. In: Advances in human genetics. Volume 19, 1990, pp. 1-103, 331, ISSN 0065-275X . PMID 2193487 . (Review).
- JW Spranger: Bone Dysplasias. Urban & Fischer 2002, ISBN 3-437-21430-6 .
- 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. Volume 39, No. 3, June 1991, pp. 243-246, ISSN 0148-7299 . doi: 10.1002 / ajmg.1320390302 . PMID 1867272 .
- H. Chen, D. Mirkin, S. Yang: De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes. In: American journal of medical genetics. Volume 53, No. 2, November 1994, pp. 165-171, ISSN 0148-7299 . doi: 10.1002 / ajmg.1320530209 . PMID 7856642 . (Review).
Individual evidence
- ↑ a b c d B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .
- ↑ a b Who named it
- ↑ Beemer-Langer Syndrome. In: Online Mendelian Inheritance in Man . (English)
- ^ FA Beemer, LO Langer, JM Klep-de Pater, AM Hemmes, JB Bylsma, RM Pauli, TL Myers, CC Haws: A new short rib syndrome: report of two cases. In: American journal of medical genetics. Volume 14, No. 1, January 1983, pp. 115-123, ISSN 0148-7299 . doi: 10.1002 / ajmg.1320140116 . PMID 6829599 .
- ↑ Beemer-Langer Syndrome. In: Orphanet (Rare Disease Database).
- ↑ W. Schuster, D. Färber (Ed.): Children's radiology. Imaging diagnostics. Volume 1, Springer 1996, ISBN 3-540-60224-0 , p. 316.
- ^ 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. Volume 11, No. 4, April 1998, pp. 298-302, ISSN 0960-7692 . doi: 10.1046 / j.1469-0705.1998.11040298.x . PMID 9618859 .
