Le Marec Syndrome

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

The Le Marec syndrome 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 underdeveloped lungs .

It was first described in 1982 by the French pediatrician B. Le Marec .

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, often polydactyly

In this type there is frequent hydrops , death before or shortly after birth. In addition there are situs inversus, hypoplastic left heart, penile hypoplasia, laryngeal hypoplasia, pancreatic fibrosis.

diagnosis

The x-ray shows short ribs, the long bones are short, otherwise well structured. The proximal epiphyses of the humerus and femur ossify prematurely.

A diagnosis by sonography in the womb is possible.

Differential diagnosis

Due to the x-ray changes, the other types of short-rib polydactyly syndromes such as Saldino-Noonan syndrome , Verma-Naumoff syndrome , Majewski syndrome as well as Ellis-van-Creveld syndrome can be differentiated.

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 .

Individual evidence

↑ ^a ^b ^c ^d ^e 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
↑ B. Le Marec, H. Bracq, C. Lambotte, A. Nivelon, R. Pfeiffer, L. Toudic: [Polydactyly]. In: Journal de génétique humaine. Vol. 30, No. 4, November 1982, pp. 317-328, ISSN 0021-7743 . PMID 7169597 .
↑ Le Marec Syndrome. In: Orphanet (Rare Disease Database).
^ S. Sridhar, R. Kishore, N. Thomas, AK Jana: Short rib polydactyly syndrome-Type I. In: Indian journal of pediatrics. Vol. 71, No. 4, April 2004, pp. 359-361, ISSN 0019-5456 . PMID 15107523 .

[Leiber-1] 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

[2] B. Le Marec, H. Bracq, C. Lambotte, A. Nivelon, R. Pfeiffer, L. Toudic: [Polydactyly]. In: Journal de génétique humaine. Vol. 30, No. 4, November 1982, pp. 317-328, ISSN 0021-7743 . PMID 7169597 .

[3] Le Marec Syndrome. In: Orphanet (Rare Disease Database).

[4] S. Sridhar, R. Kishore, N. Thomas, AK Jana: Short rib polydactyly syndrome-Type I. In: Indian journal of pediatrics. Vol. 71, No. 4, April 2004, pp. 359-361, ISSN 0019-5456 . PMID 15107523 .