CLINICAL REPORTWe present a male infant, the second child of non‐consanguineous Irish parents, who was initially seen in the Genetics clinic at seven months of age. His family history was unremarkable apart from a maternal relative with a thoraco‐abdominal aortic aneurysm. He was born at 41.5 weeks weighing 3.59 kg. There was no maternal history of epilepsy or diabetes, and there was no reported maternal use of alcohol, illicit drugs, tobacco, or prescription medication during the pregnancy. No abnormalities were detected antenatally despite scans at 12 and 22 weeks of gestation. At birth, bilateral limb deficiency was noted.At the time of review, the child was noted to be thriving, and his development was age‐appropriate. He was described as a pleasant, interactive child. On examination, he was non‐dysmorphic apart from his limb abnormalities, and a subtle glabellar naevus flammeus. His right hand had three digits, including a near‐vestigial thumb. Digits 2 and 3 were webbed, with syndactyly of the 2nd digit at the proximal phalanx (Figure a). On the left hand, he had two fused digits. Appendicular skeleton appeared otherwise normal clinically, as were his genitalia and eye movements. He had normal passive and active movement about the shoulder. Other than
American Journal of Medical Genetics Part A – Wiley
Published: May 1, 2018
Keywords: ; ; ; ;
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