Radial aplasia

Classification according to ICD-10
Q71.4	Longitudinal reduction defect of the radius
ICD-10 online (WHO version 2019)

The radial aplasia is a rare malformation with complete or partial absence ( aplasia ) of the radius .

Synonyms are: longitudinal reduction defect of the radius; Ectromelia; Partial radial aplasia; Total radial aplasia; Radial Clubhand; Radial hemimelia; Latin Manus vara

Often there are other anomalies such as hypoplasia on the radial side of the wrist and hand, especially the thumb , so-called radial longitudinal reduction defect with the formation of a club hand .

In the context of syndromes

Radius aplasia is a hallmark of various syndromes :

• in Diplocheirie and Diplopodie
• Baller-Gerold syndrome
• De Toni Fanconi Syndrome
• Edwards Syndrome
• Holt-Oram Syndrome
• IVIC syndrome
• Rodent syndrome
• Patau syndrome
• Roberts Syndrome
• Rothmund-Thomson Syndrome
• TAR syndrome
• VACTERL association

Pathogenesis

This most common longitudinal malformation is caused by a disruption of embryonic development due to damaging influences, mostly between the 3rd and 8th week of pregnancy .

distribution

The frequency is stated to be between 1 in 30,000 and 1 in 100,000 live births, half of which are bilateral, somewhat more often in boys than in girls. Most cases occur sporadically, only about 20% are familial.

root cause

Mutations on chromosome 22 locus q11 were found in one patient .

There is also an X chromosomal inherited form.

Classification

A widely used classification is that of Bayne and Klug :

• Type 1: Distal radius shortened from normal shape
• Type 2: Radial hypoplasia with existing epiphyses proximal and distal, the rarest form
• Type 3: Distally partially missing radius
• Type 4: Completely missing radius, most common shape

Clinical manifestations

Clinical criteria are:

• Forearm shortened at birth with radial deviation of the hand (radial club hand). Decreased ability to bend the elbow joint ( contracture )
• Missing or hypoplastic thumb and metacarpals I.
• Stiffening of the metacarpophalangeal joint and proximal interphalangeal joint
• Absence of the flexor pollicis longus muscle , hypoplasia, or absence of the flexor carpi radialis and radial carpal extensors ( extensor carpi radialis brevis and extensor carpi radialis longus ). Hypoplasia and abnormal insertion of the extensors of the index finger and middle finger

diagnosis

It can be recorded using fine ultrasound even before birth . The extent of bone changes is documented in the X-ray .

therapy

Treatment should start early with a compression splint. An operation indication should be clarified at the age of 6–12 months, especially if the index finger is to be converted into a thumb later.

Diseases in animals

A hemimelia of the radius occurs occasionally in domestic cats, and affected animals are also known as " kangaroo cats ".

literature

• Saifullah Khalid, Mohd Faizan et al. a .: Congenital longitudinal radial deficiency in infants: Spectrum of isolated cases to VACTERL syndrome. In: Journal of Clinical Neonatology. 2, 2013, p. 193, doi: 10.4103 / 2249-4847.123104
• W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, ISBN 3-540-60224-0 , Vol. 1, p. 104
• K. Bay, C. Levine: Congenital radial aplasia. Results of 10 cases and review. In: Missouri medicine. Vol. 85, No. 2, February 1988, pp. 87-92, PMID 3278202 (review).
• TD Stephens: Muscle abnormalities associated with radial aplasia. In: Teratology . Vol. 27, No. 1, February 1983, pp. 1-6, doi: 10.1002 / tera.1420270102 , PMID 6845210 .
• E. Schirg: [Radial aplasia and associated defects (author's transl)]. In: Röntgen sheets; Journal for X-ray technology and medical-scientific photography. Vol. 31, No. 9, September 1978, pp. 516-518, PMID 694384 .
• MJ Goldberg, M. Meyn: The radial clubhand. In: The Orthopedic clinics of North America. Volume 7, Number 2, April 1976, pp. 341-359, PMID 1264431 .

Individual evidence

1. ^ Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0 , keyword radius aplasia
2. ↑ ^{a b c d e f} F. Hefti: Pediatric orthopedics in practice. Springer 1998, ISBN 3-540-61480-X .
3. ↑ 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 .
4. ↑ J. Carls: Radiale Klumphand. (PDF; 82 kB) July 2008
5. ↑ Lexicon Orthopedics
6. ^ LG Bayne, MS Klug: Long-term review of the surgical treatment of radial deficiencies. In: The Journal of hand surgery. Vol. 12, No. 2, March 1987, pp. 169-179, PMID 3559066 .
7. ↑ MC Digilio, A. Giannotti, B. Marino, AM Guadagni, M. Orzalesi, B. Dallapiccola: Radial aplasia and chromosome 22q11 deletion. In: Journal of medical genetics. Vol. 34, No. 11, November 1997, pp. 942-944, PMID 9391893 , PMC 1051127 (free full text).
8. ↑ RADIAL APLASIA, X-LINKED.  In: Online Mendelian Inheritance in Man . (English)
9. ^ LG Bayne, MS Klug: Long-term review of the surgical treatment of radial deficiencies. In: The Journal of hand surgery. Vol. 12, No. 2, March 1987, pp. 169-179, PMID 3559066 .
10. ↑ CP Chen, CY Hsu: Prenatal identification of fetal radial aplasia and esophageal atresia in a pregnancy associated with polyhydramnios. In: Prenatal diagnosis. Vol. 24, No. 3, March 2004, pp. 233-234, doi: 10.1002 / pd.808 , PMID 15057962 .
11. ^ A. Pernet: The management of congenital radial aplasia. In: Annals of plastic surgery. Vol. 6, No. 6, June 1981, pp. 430-436, PMID 7271170 .

Web links

• Right diagnosis

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