Elbow aplasia

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Classification according to ICD-10
Q74.0 Other congenital malformations of the upper extremity (s) and shoulder girdle
ICD-10 online (WHO version 2019)

The Ellbogenaplasie is a very rare congenital disease with the main feature of a aplasia of the elbow joint and correspondingly to lack of mobility. At least one forearm bone is connected to the humerus bone ( synostosis ).

Synonyms are: congenital ankylosis; Humeroradial synostosis; Humeroradial fusion; Humeroradioulnar synostosis

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant or autosomal - recessive X-linked . A few hundred patients have been reported to date. The male sex is affected somewhat more frequently, with aplasia on both sides in almost half.

root cause

The cause is not yet known.

to form

According to the extent of the synostosis can be distinguished:

  • Humeroradial synostosis , most common form
  • Humeroulnar synostosis , rarest form, turning movement of the forearm preserved
  • Humeroradioulnar synostosis

In the case of a radioulnar synostosis , the joint and thus mobility are preserved.

classification

The following classification according to Pfeiffer and Braun-Quentin is common:

  • Elbow aplasia in the context of generalized malformations with synostoses
  • Humeral radial synostosis without oligodactyly
  • Humeral radial synostosis with oligodactyly.

Clinical manifestations

Clinical criteria are:

  • Shortening of the arm with flexion in the elbow, often in pronation position
  • Underdeveloped muscles of the arm, often with cicatricial retraction dorsally
  • Often additional malformations on the ulna, metacarpal and fingers, but also on the feet, possibly pterygium

diagnosis

In the X-ray image , the fusion can only be recognized after a few months due to the progressive ossification of the cartilage, while in the ultrasound the missing joint space can already be recognized prenatally ( intrauterine ).

In the context of syndromes

Elbow aplasia can occur with some syndromes:

literature

  • JD McIntyre, A. Brooks, MK Benson: Humeroradial synostosis and the multiple synostosis syndrome: case report. In: Journal of pediatric orthopedics. Part B. Vol. 12, No. 3, May 2003, pp. 192-196, doi: 10.1097 / 01.bpb.0000060287.16932.ec , PMID 12703033 .
  • JC Ramer, RL Ladda: Humero-radial synostosis with ulnar defects in sibs. In: American journal of medical genetics. Vol. 33, No. 2, June 1989, pp. 176-179, doi: 10.1002 / ajmg.1320330207 , PMID 2669480 (review).
  • RB Surana, SM Sinkford: Humero-radial synostosis. In: Clinical genetics. Vol. 13, No. 2, February 1978, pp. 169-170, PMID 627108 .
  • R. Romanus: Vol. A case of congenital ankylosis in the elbow joint. In: Acta Orthopedica Scandinavica. Vol. 4, 1933, pp. 291-305.
  • A. Mouchet, L. St. Pierre: Ankylosis congenitale hereditaire et symetrique des deux coudes. In: Revue Orthopédique , Vol. 18, 1931, pp. 210-218.

Individual evidence

  1. ↑ a b c d e C. J. Wirth, L. Zichner, AK Martini: Orthopedics and Orthopedic Surgery. In: W. Winkelmann (editor): Tumors, tumor-like diseases , Georg Thieme Verlag, 2003, ISBN 3-13-126181-1
  2. ↑ Synostosis, humero-radial. In: Orphanet (Rare Disease Database).
  3. ↑ Humeroradial Synostosis.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ HUMERORADIAL SYNOSTOSIS.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ RA Pfeiffer, C. Braun-Quentin: Genetic nosology and counseling of humeroradial synostosis. In: Genetic counseling (Geneva, Switzerland). Vol. 5, No. 3, 1994, pp. 269-274, PMID 7811427 .
  6. ↑ G. Savoldelli, A. Schinzel: Prenatal ultrasound detection of humero-radial synostosis in a case of Antley-Bixler syndrome. In: Prenatal diagnosis. Vol. 2, No. 3, July 1982, pp. 219-223, PMID 7145849 .
  7. ↑ 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 .

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