Familial ectrodactyly: a rare report of lobster-claw in a Malay family
We describe a case of ectrodactyly in isolated non-syndromic form claw in three living generation of a Malay family which presented as autosomal dominant pattern of inheritance with sporadic occurrence. To our knowledge, this is the first report of such case in Malaysia. A three-year-old boy wit...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Published: |
Diyarbakir: Ektodermal Displazi Grubu-Türkiye
2021
|
| Online Access: | http://psasir.upm.edu.my/id/eprint/97304/ https://www.jidmr.com/journal/contents-of-jidmr-2021-vol-14-no-3/ |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | We describe a case of ectrodactyly in isolated non-syndromic form claw in three living
generation of a Malay family which presented as autosomal dominant pattern of inheritance with
sporadic occurrence. To our knowledge, this is the first report of such case in Malaysia.
A three-year-old boy with claw toes presented to Paediatric Orthopaedic Unit accompanied by
his mother and grandfather. He is an active child with normal intellectual. Neither facial
dysmorphism nor cleft lip and palate was observed. His right tibia is shorter than the left one and
his ankle is totally dislocated posteriorly. His right foot has only one ray and his right ankle joint is in
100’ equinus. For his left lower limb, the leg and ankle are normal. However, the left foot is bifid with
two lateral and one medial ray. He can walk on the stump of distal right ankle but with short limb
gait. He prefers to walk in kneeling position as he finds it a bit faster and that he can move freely.
Other systemic reviews are unremarkable.
His mother was born with the similar deformity on the feet and ankle. She underwent below
knee amputation at the age of 6 and has been using prosthesis since after corrective surgery failed.
The grandfather has central splits in both hands and bifid femur bilaterally. Only one ray present on
each foot.
The prognosis for most people with ectrodactyly syndrome is very good. Various cosmetic
prosthesis, amputation or reconstructive surgery might help, depending on the type of deformity
and as per case basis. Multidisciplinary care would contribute significantly to improve the survival
and the quality of life of a child with congenital musculoskeletal malformations such as ectrodactyly. |
|---|