Stüve-Wiedemann syndrome

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Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias
ICD-10 online (WHO version 2019)

The Stüve-Wiedemann syndrome is a very rare congenital disorder belonging to skeletal dysplasias with the main characteristics of a bending of the long bones together with short stature and camptodactyly .

Synonyms are: Stüve-Wiedemann dysplasia or Schwartz-Jampel syndrome type 2 , English is often spelled without umlauts .

The name refers to the authors of the first description from 1971, the German pediatrician Annemarie Stüve and the pediatrician Hans-Rudolf Wiedemann .

distribution

The frequency is not known, the inheritance is done autosomal - recessive . The disease is said to occur more frequently in Arab patients.

root cause

The disease is based on mutations in the LIFR gene at location 5p13.1.

This is where the leukemia- inhibiting factor receptor is located ; the mutations lead to a lower production of LIFR proteins.

Clinical manifestations

Clinical criteria are:

Complications are recurrent attacks of fever or shortness of breath , which often lead to death in the newborn .

Otherwise, a developed scoliosis , there is spontaneous fractures , reduced corneal - and Patellarsehnenreflexen and other neurological abnormalities.

diagnosis

The x-ray shows shortening and metaphyseal broadening of the long tubular bones, altered substantia cancellous bone , bending of the shinbone , femur and humerus, and hypoplasia of the midface.

It is possible to record it in the womb using fine ultrasound .

Differential diagnosis

The following are to be distinguished:

literature

Individual evidence

  1. ↑ a b c d e f Stüve-Wiedemann syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ a b c M. Reither, M. Urban, KS Kozlowski, M. Pritsch, FK Tegtmeyer: Stüve-Wiedemann syndrome in a pair of siblings: with special consideration of a patient with currently the longest survival rate. In: Clinical Pediatrics. Vol. 218, No. 2, 2006 Mar-Apr, pp. 79-84, doi: 10.1055 / s-2005-836595 , PMID 16506108 .
  3. ^ A. Stüve, HR Wiedemann: Congenital bowing of the long bones in two sisters. In: The Lancet (London, England). Vol. 2, No. 7722, August 1971, p. 495, PMID 4105362
  4. ↑ Where named it
  5. ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, p. 662, ISBN 3-540-61480-X .
  6. ^ Stüve-Wiedemann syndrome.  In: Online Mendelian Inheritance in Man . (English)
  7. ^ HJ Philippe, A. Paupe, P. Dompeyre, R. Lenclen, I. Nisand: Conduite a tenir devant la decouverte echographique d'un femur court in utero. A propos d'un diagnostic antenatal de syndrome de Stuve-Wiedemann. In: Journal de gynécologie, obstétrique et biologie de la reproduction. Vol. 22, No. 3, 1993, pp. 269-274, PMID 8345151 (review).
  8. ↑ MA Begum, W. Alsafi, GN Bekdache, F. Chedid, L. Al-Gazali, HM Mirghani: Stuve-Wiedemann syndrome: a skeletal dysplasia Characterized by bowed long bones. In: Ultrasound in Obstetrics & Gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 38, No. 5, November 2011, pp. 553-558, doi: 10.1002 / uog.8967 , PMID 21337444 .
  9. ↑ Crisponi's syndrome. In: Orphanet (Rare Disease Database).

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