Melnick Needles Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q77.8 | Other osteochondrodysplasias with growth disorders of the long bones and the spine |
| ICD-10 online (WHO version 2019) | |
The Melnick-Needles syndrome (MNS) is a very rare, the spectrum of the Oto-palato-digital syndrome associated with congenital skeletal dysplasia with characteristic physical abnormalities and changes in long bones and the skull .
Synonyms are: osteodysplasty; Osteodysplasty of the Melnick needle type; Melnick-Needles type osteodysplasia
The name refers to the first author of the first description from 1966 by the American radiologist John Charles Melnick (* 1928) and the pediatrician Carl F. Needles (* 1935).
distribution
The frequency is given as less than 1 in 1,000,000, so far almost 100 patients have been described. Inheritance is X-linked dominant .
Male fetuses die in utero with signs of embryopathy ( exophthalmos , omphalocele , malrotation , skeletal abnormalities).
root cause
The disease is based on mutations in the FLNA gene at locus Xq28.
Clinical manifestations
Clinical criteria are:
- Skull and facial changes such as prominent, hairy forehead , pronounced supraorbital bulge, exophthalmos, hypertelorism , microgenius , misaligned teeth
- often noticeable gait pattern , foot misalignment
- frequent repeated respiratory infections, failure to thrive
diagnosis
In the X-ray -to-find features:
- Delayed closure of the fontanelles , large posterior fossa
- Frontal hyperostosis , lack of frontal sinuses , micrognathia , sclerotherapy of the skull base
- Signs of skeletal dysplasia with cortical irregularities, bending of the long tubular bones and ribbon-shaped ribs
- Coxa valga , pelvic dysplasia
- Scoliosis , dysplastic vertebral bodies
treatment
The treatment is symptomatic. Occasionally, surgical correction of the scoliosis or the malalignment of the jaw may be necessary.
Prospect of healing
The prognosis depends on the infections and their complications .
Individual evidence
- ↑ a b c 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 .
- ^ Who named it Melnick
- ^ Who named it Needles
- ↑ JC Melnick, CF Needles: An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 97, No. 1, May 1966, pp. 39-48, PMID 5938049 .
- ↑ a b c Melnick-Needles osteodysplasty. In: Orphanet (Rare Disease Database).
- ^ Melnick-Needles syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ MG Lykissas, AH Crawford, HL Shuffle Barger, S. Gaines, V. Permal: Correction of spine deformity in patients with Melnick-needles syndrome: report of two cases and literature review. In: Journal of pediatric orthopedics. Vol. 33, No. 2, March 2013, pp. 170-174, doi: 10.1097 / BPO.0b013e3182776edb , PMID 23389572 (Review).
- ↑ S. Young, K. Wermker, U. Joos, J. Klein Heinz: Orthognathic surgery in Melnick-Needles syndrome. Case report and review of the literature. In: International journal of oral and maxillofacial surgery. Vol. 41, No. 3, March 2012, pp. 309-312, doi: 10.1016 / j.ijom.2011.08.007 , PMID 22014680 (review).
