A case of ectrodactyly in a neonate

Area of Science:

• Medical Genetics
• Developmental Biology
• Orthopedics

Background:

• Ectrodactyly, a rare congenital limb malformation, is characterized by midline clefts in hands and feet, often with syndactyly.
• Also known as split hand/foot malformation or "lobster claw" deformity, it typically follows autosomal dominant inheritance with variable penetrance.

Purpose of the Study:

• To report a case of ectrodactyly in a neonate.
• To provide a brief review of the existing literature on ectrodactyly.

Main Methods:

• Clinical case presentation of a neonate diagnosed with ectrodactyly.
• Literature review focusing on the etiology, inheritance patterns, clinical manifestations, and management of ectrodactyly.

Main Results:

• The neonate presented with classic features of ectrodactyly, including midline clefts and syndactyly.
• Literature review confirmed the rarity and genetic basis of the condition, highlighting variable expressivity.

Conclusions:

• Ectrodactyly is a significant congenital anomaly requiring careful diagnosis and management.
• This case underscores the importance of recognizing ectrodactyly and its genetic implications in neonates.