Raine Syndrome

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Classification according to ICD-10
Q78.2 Marble Bone Disease
ICD-10 online (WHO version 2019)

The Raine syndrome is a very rare congenital and often lethal running skeletal dysplasia with main characteristics osteosclerosis , facial dysmorphia , and intracranial calcification .

Synonyms are: bone dysplasia, osteosclerotic, lethal form; english osteosclerotic bone dysplasia

The name refers to the first authors of the first description from 1989 by the English doctors J. Raine and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, most of the 10 affected people described so far came from the Middle East . Inheritance is autosomal - recessive .

root cause

The disease are loss-of-function mutations in FAM20C - gene on chromosome 7 locus p22.3 based on which 4 for a dentin matrix protein kinase encoded.

Clinical manifestations

Clinical criteria are:

In the X-ray image is a generalized place osteosclerosis of all bones including the skull base in the sonography are extensive calcifications leave the ventricles, in the basal ganglia , the thalamus evidence.

diagnosis

The diagnosis is based on the clinical findings as well as the detection of the calcifications in ultrasound , X-rays or computed tomography . Detection by means of fine ultrasound or DNA analysis is possible even before birth .

literature

  • K. Tamai, K. Tada, A. Takeuchi, M. Nakamura, H. Marunaka, Y. Washio, H. Tanaka, F. Miya, N. Okamoto, M. Kageyama: Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome. In: American journal of medical genetics. Part A. Vol. 176, No. 3, March 2018, pp. 682-686, doi: 10.1002 / ajmg.a.38598 , PMID 29341424 .
  • SC Elalaoui, N. Al-Sheqaih, I. Ratbi, JE Urquhart, J. O'Sullivan, S. Bhaskar, SS Williams, M. Elalloussi, J. Lyahyai, ​​L. Sbihi, I. Cherkaoui Jaouad, A. Sbihi, WG Newman, A. Sefiani: Non lethal Raine syndrome and differential diagnosis. In: European journal of medical genetics. Vol. 59, No. 11, November 2016, pp. 577-583, doi: 10.1016 / j.ejmg.2016.09.018 , PMID 27667191 .
  • MZ Seidahmed, AM Alazami, OB Abdelbasit, K. Al Hussein, AM Miqdad, O. Abu-Sa'da, T. Mustafa, S. Bahjat, FS Alkuraya: Report of a case of Raine syndrome and literature review. In: American journal of medical genetics. Part A. Vol. 167A, No. 10, October 2015, pp. 2394-2398, doi: 10.1002 / ajmg.a.37159 , PMID 25974638 .

Individual evidence

  1. ↑ a b c bone dysplasia, osteosclerotic, lethal form. In: Orphanet (Rare Disease Database).
  2. ↑ J. Raine, RM Winter, A. Davey, SM Tucker: Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. In: Journal of medical genetics. Vol. 26, No. 12, December 1989, pp. 786-788, PMID 2614802 , PMC 1015765 (free full text).
  3. ^ Raine syndrome.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ MP Whyte, WH McAlister, MD Fallon, ME Pierpont, VN Bijanki, S. Duan, GA Otaify, WS Sly, S. Mumm: Raine Syndrome (OMIM # 259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). In: Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research. Vol. 32, No. 4, 04 2017, pp. 757-769, doi: 10.1002 / jbmr.3034 , PMID 27862258 .
  5. ↑ Osteomalacia, Sclerosing, With Cerebral Calcification.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ D. Chitayat, P. Shannon, S. Keating, A. Toi, S. Blaser, T. Friedberg, A. Superti-Furga, K. Chong, S. Unger: Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. In: American journal of medical genetics. Part A. Vol. 143A, No. 24, December 2007, pp. 3280-3285, doi: 10.1002 / ajmg.a.32022 , PMID 18000911. [Full Text]

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