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Case Reports
. 2019 Aug;179(8):1565-1569.
doi: 10.1002/ajmg.a.61189. Epub 2019 May 10.

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

Monica H Wojcik  1   2 , Kate Linnea  3 , Joan M Stoler  1 , Leonard Rappaport  3
Affiliations
Case Reports

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

Monica H Wojcik et al. Am J Med Genet A. 2019 Aug.

Abstract

Alazami syndrome, caused by biallelic pathogenic variants in LARP7, is a recently-described rare genetic disorder, with 17 patients currently reported in the literature. We present a case of a male infant referred for genetics evaluation at 5 months of age, found at 17 months of age to have Alazami syndrome. He was promptly referred for developmental evaluation, where he was found to be higher functioning than prior reports of individuals with this condition. This demonstrates the neurodevelopmental phenotypic variability seen in rare genetic disorders; it also demonstrates the important role of developmental programs to measure and track outcomes and provide support for infants with genetic disorders that put them at risk of developmental disabilities.

Keywords: LARP7; Alazami syndrome; developmental disabilities; primordial dwarfism.

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Figures

Figure.
Figure.
Photographs of the patient at two years of age demonstrate a prominent forehead, malar hypoplasia, a flat nasal bridge, thin upper lip, and mild micrognathia (A,B) and overlapping of the second and fourth toes over the third toe (C) consistent with the diagnosis of Alazami syndrome.
See this image and copyright information in PMC

References

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