Bilateral Upper Limb Complete Phocomelia: A Case Report

Abstract

Introduction

Phocomelia is an uncommon congenital condition in which the hand or foot are normal or almost normal but the proximal section of the limb – the humerus or femur, radius or tibia, ulna or fibula –_is missing or noticeably hypoplastic. It refers to how the patient’s limbs resemble marine creatures’ flippers and its prevalence is 0.62 in 100,000 births.

Case

We present a 15-min-old male neonate born to a para-four mother who did not remember her LNMP but claimed to be amenorrheic for the past nine months. The mode of delivery was by cesarean section to extract alive neonate weighing 2.01 kg with APGAR scores of 5 and 6 at first and fifth minutes, respectively. The neonate did not cry and was resuscitated for five minutes. He was then transferred to neonatal intensive care unit for further management and investigations. His vital signs were pulse rate 160 beats per minute, respiratory rate 70 breaths per minute, temperature 33.4 degrees centigrade and saturation was 60% off oxygen. On HEENT anterior fontanelle measures 2 cm by 2 cm and has micrognathia and short neck. On the respiratory system, there were intercostal and subcostal retractions, labored breathing and grunting. On the musculoskeletal system there is bilateral upper extremity shortening, the right lower limb was normal in position and structure, the left leg rotated inward (bent in medially) at the knee joint and foot was normal in structure.

Conclusion

Phocomelia is a rare congenital anomaly in which the hand or foot are directly attached to the trunk. Ultrasonography should be done as early as possible to identify fetal anomalies in order to plan subsequent management.

Keywords:

• phocomelia
• upper limb
• ultrasonography
• neonate

Data Sharing Statement

Data on the case clinical information, informed consent form, and images are available for review from the corresponding author upon request.

Consent

Written informed consent was taken from the patient’s parent for publication of his condition and accompanying images.

Disclosure

The authors declare that there are no conflicts of interest.