Greig Syndrome: A Rare Disease - Case Report
Journal Title: Progressing Aspects in Pediatrics and Neonatology - Year 2018, Vol 2, Issue 1
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.Typical Grieg cephalopolysyndactyly syndrome (GCPS) is characterized by a preaxial polydactyly or a mixed pre- and/or postaxial polydactyly, true wide spaced eyes, and macrocephaly. Individuals with mild GCPS may have subtle craniofacial findings. The mild end of the GCPS spectrum is a continuum with preaxial polysyndactyly type IV and crossed polydactyly (preaxial polydactyly of the feet and postaxial polydactyly of the hands plus syndactyly of fingers 3-4 and toes 1-3). Individuals with severe GCPS may have seizures, hydrocephalus and intellectual disability. This condition israre and its prevalence is unknown. Grieg syndrome has a wide range of varieties depending on the Mutations in the GLI3 gene related to chromosome 7, and the presence of continuous intermittent tachypnea did not report as a primary fetcher. Certain cranial sutures may close prematurely (craniosynostosis). Such irregular closure of the sutures may cause the head to appear shaped abnormally (scaphocephaly, trigonocephaly, or plagiocephaly). Rarely, less than 10% of affected individuals may have more serious medical problems including seizures, delayed development, and intellectual disability, build-up of fluid inside the skull (hydrocephalus), and abnormalities affecting the nerve fibers (corpus callosum) that connect the two cerebral hemispheres of the brain, may be present.
Authors and Affiliations
Anwar A Mithwani, Adnan A Mithwani, Muhammad Ziad Shama, Assem Ahmad Kadrey, Abdullah Alomar Almeshrif, Amerullah Malik
Keywords
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- EP ID EP583282
- DOI 10.32474/PAPN.2019.02.000129
- Views 87
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