Curr Health Sci J, vol. 48, no. 3, 2022

An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations

[Case Report]

S.V. Singh(1), G. Puri(1), A.E. Gemmy(2)


(1)Department of Orthopedics, Central Institute of Orthopedics, Safdarjung Hospital, New Delhi, India,
(2)K.S. Hegde Medical Academy, Manglore, Karnataka, India


Abstract:

Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM.


Keywords:
Split hand and foot malformation, autosomal dominant, congenital malformation, limb deformity, genetic counselling, ectrodactyly.



Corresponding:
Surya Vijay Singh, Department of Orthopedics, Central Institute of Orthopedics, Safdarjung Hospital, New Delhi, e-mail: suryavijaysingh89@gmail.com


DOI 10.12865/CHSJ.48.03.16 - Download PDF