Ektrodaktylie
Ectrodactyly • Ectrodactyly - Ganzer Fall bei Radiopaedia
Ectrodactyly
• Ectrodactyly - Ganzer Fall bei Radiopaedia
Ectrodactyly • Ectrodactyly - Ganzer Fall bei Radiopaedia
Ectrodactyly
• Ectrodactyly - Ganzer Fall bei Radiopaedia
Ectrodactyly • Ectrodactyly - Ganzer Fall bei Radiopaedia
Ectrodactyly
• Ectrodactyly - Ganzer Fall bei Radiopaedia
Ectrodactyly • Ectrodactyly of bilateral hands and feet - Ganzer Fall bei Radiopaedia
Ectrodactyly
• Ectrodactyly of bilateral hands and feet - Ganzer Fall bei Radiopaedia
Ectrodactyly • Limb-mammary syndrome - Ganzer Fall bei Radiopaedia
Ectrodactyly
• Limb-mammary syndrome - Ganzer Fall bei Radiopaedia
Ectrodactyly • Ectrodactyly - Ganzer Fall bei Radiopaedia
Ectrodactyly
• Ectrodactyly - Ganzer Fall bei Radiopaedia
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. Radiological images of the upper limbs and pelvis of the proband showing complete absence of the metacarpal and the phalanges of the third digit on the left hand and absent metacarpals and phalanges of two digits on the right hand. Rest of the upper limbs and upper femur were radiologically normal
Split
hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. Radiological images of the upper limbs and pelvis of the proband showing complete absence of the metacarpal and the phalanges of the third digit on the left hand and absent metacarpals and phalanges of two digits on the right hand. Rest of the upper limbs and upper femur were radiologically normal
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siehe auchEctrodactyly (also known as a split hand-split foot malformation, cleft hand or lobster claw hand) is a skeletal anomaly predominantly affecting the hands (although the feet can also be affected). The condition has a highly variable severity.
Epidemiology
The estimated incidence is at ~ 1 in 90,000-150,000 births.
Pathology
It results from a longitudinal deficiency in central digits where the mechanism is thought to be a failure of the median apical ectodermal ridge in the developing limb bud.
Genetics
The most common mode of transmission is as an autosomal dominant trait, although autosomal recessive and X-linked modes of transmission also have been described.
Associations
- syndromic
- EEC syndrome (ectrodactyly-ectrodermal dysplasia-clefting syndrome)
- ectrodactyly
- ectodermal dysplasia
- cleft lip or palate
- Karsch-Neugebauer syndrome
- Roberts syndrome
- EEC syndrome (ectrodactyly-ectrodermal dysplasia-clefting syndrome)
- non syndromic
- syndactyly, aplasia, or hypoplasia of the residual phalanges/metacarpals
- sensorineural hearing loss
Radiographic features
Plain film
- there is a deficiency or absence of one or more central digits of the hand +/- feet
- characterized by a deep V- or U-shaped central bony defect
Differential diagnosis
General differential considerations include
- amniotic band sequence: usually unilateral and may be not symmetrical
Siehe auch:
- Amniotisches-Band-Syndrom
- Syndaktylie
- Polysyndaktylie
- EEM-Syndrom
- Oligodaktylie
- Gollop-Wolfgang-Syndrom
- Tibia-Aplasie-Ektrodaktylie-Syndrom
- Karsch-Neugebauer-Syndrom
- Femur-Bifurkation
- ADULT-Syndrom
und weiter:
Assoziationen und Differentialdiagnosen zu Ektrodaktylie:
