Greig Syndrome: A Rare Disease - Case Report

Volume 2 - Issue 1

Anwar A Mithwani¹*, Adnan A Mithwani², Muhammad Ziad Shama³, Assem Ahmad Kadrey³, Abdullah Alomar Almeshrif³ and Amerullah Malik⁴

Received: January 21, 2019   Published: January 25, 2019

DOI: 10.32474/PAPN.2019.02.000129

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Abstract

Grieg cephalopolysyndactyly syndrome (GCPS) is a rare congenital genetic disorder present at birth, characterized through physical abnormalities, primarily affecting the development of the limbs, head, and face (craniofacial malformations). We report a case of a full term, newborn female, large for gestational age with 4.2 kg. Symptoms included transient tachypnea of the newborn and craniofacial dysmorphism. The mother was G5P4 with gestational diabetes, and a reported case of polyhydramnios but did not have any previously affected babies. The craniofacial dysmorphism anomalies consisted of macrocephaly (Head circumference of 39 cm with a standard deviation of 2+ for her age), frontal bossing with a broad forehead, a groove between the frontal bone, widely spaced eyes, bilateral polysyndactyly, a thumb and an extra digit fused bilaterally in the toes. However, imaging such as CXR & skeletal survey were normal. Her tachypnea partially improved and only occurred intermittently during feeds, maintained her vital signs well and remained at room air, feeding on demand. Consults with neurology, ENT and ophthalmology specialists in hospital did not add any new findings. She was then discharged from the hospital with referral to genetics to assess the child and counsel the family as an outpatient.

Abstract| Background| Case Presentation | Investigations| Treatment| Outcome and Follow-Up| Discussion| Learning Points| References|