Verma-Naumoff Syndrome

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

The Verma Naumoff syndrome or short-rib polydactyly syndrome type 3 is a special form of congenital hereditary Osteochondrodysplasias with lethal course and one of the Kurzripp-polydactyly syndromes characterized by short ribs and underdeveloped lungs.

It was first described in 1974 by the Mainz pediatrician Jürgen Spranger , the delimitation of type I was made in 1975 by IC Verma and in 1977 by P. Naumoff .

distribution

The frequency of this group of diseases is not known; the inheritance is autosomal - recessive . This type is considered to be significantly more common than type I Saldino-Noonan syndrome .

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

This type often has hydrops , sunken nasal roots, respiratory insufficiency , and polydactyly in more than half . There are also complex heart defects , short intestines, malrotation , anal atresia, urethral atresia, genital hypoplasia , renal hypoplasia or aplasia , uterine duplex , cleft lip and palate , epiglottic dysplasia and esophageal atresia .

diagnosis

The x-ray shows short ribs, the long bones have jagged ends in contrast to Saldino-Noonan syndrome . The long bones are not so significantly shortened.

A diagnosis by sonography in the womb is possible. In suspected cases, other imaging methods such as magnetic resonance imaging or computed tomography can also be used.

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 .
^ Verma-Naumoff syndrome. In: Orphanet (Rare Disease Database).
^ Verma-Naumoff 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.
^ 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 .
↑ T. Yamada, G. Nishimura, K. Nishida, H. Sawai, T. Omatsu, T. Kimura, H. Nishihara, R. Shono, S. Shimada, M. Morikawa, M. Mizushima, T. Yamada, K Cho, S. Tanaka, H. Shirato, H. Minakami: Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. In: The journal of obstetrics and gynecology research. Volume 37, Number 2, February 2011, pp. 151-155, ISSN 1447-0756 . doi: 10.1111 / j.1447-0756.2010.01324.x . PMID 21159031 .

[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 .

[Orpha-2] Verma-Naumoff syndrome. In: Orphanet (Rare Disease Database).

[3] Verma-Naumoff syndrome. In: Orphanet (Rare Disease Database).

[4] W. Schuster, D. Färber (Ed.): Children's radiology. Imaging diagnostics. Volume 1, Springer, 1996, ISBN 3-540-60224-0 , p. 316.

[5] 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 .

[6] T. Yamada, G. Nishimura, K. Nishida, H. Sawai, T. Omatsu, T. Kimura, H. Nishihara, R. Shono, S. Shimada, M. Morikawa, M. Mizushima, T. Yamada, K Cho, S. Tanaka, H. Shirato, H. Minakami: Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. In: The journal of obstetrics and gynecology research. Volume 37, Number 2, February 2011, pp. 151-155, ISSN 1447-0756 . doi: 10.1111 / j.1447-0756.2010.01324.x . PMID 21159031 .