Saldino-Noonan Syndrome

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

The Saldino-Noonan syndrome or short-rib polydactyly syndrome type 1 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.

The name refers to the authors of the first description from 1972, the American pediatric radiologist Ronald M. Saldino and the geneticist Charles D. Noonan .

distribution

The frequency of this group of diseases is not known; the inheritance is autosomal - recessive . This type is considered to be much rarer than type II Verma-Naumoff 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

In this type, oligohydramnios , sunken nasal roots, and small chin are common. 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 horizontally running ribs, slightly ossified tubular bones tapering to a point at the ends (metaphyseal spur), an amorphous bone structure and a polydactyly , very small pelvic blades with a horizontally running acetabular roof, small and round vertebral bodies , massively shortened extremity bones .

A diagnosis by sonography in the womb is possible.

literature

Jürgen Spranger , P. Maroteaux: The lethal osteochondrodysplasias. In: Advances in human genetics. Vol. 19, 1990, pp. 1-103, 331, ISSN 0065-275X . PMID 2193487 . (Review).
Jürgen Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 .
E. Rupprecht, A. Gurski: Short rib polydactyly syndrome type Saldino-Noonan in two siblings. In: Helvetica paediatrica acta. Vol. 37, No. 2, May 1982, pp. 161-169, ISSN 0018-022X . PMID 7096117 .

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
↑ RM Saldino, CD Noonan: Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 114, No. 2, February 1972, pp. 257-263, ISSN 0002-9580 . PMID 5058513 .
^ Saldino-Noonan syndrome. In: Orphanet (Rare Disease Database).
^ Saldino-Noonan syndrome. In: Orphanet (Rare Disease Database).
↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996 vol. 1, p. 316, ISBN 3-540-60224-0 .
^ 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] RM Saldino, CD Noonan: Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 114, No. 2, February 1972, pp. 257-263, ISSN 0002-9580 . PMID 5058513 .

[Orpha-3] Saldino-Noonan syndrome. In: Orphanet (Rare Disease Database).

[4] Saldino-Noonan syndrome. In: Orphanet (Rare Disease Database).

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

[6] 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 .