A case of SMC3-related Cornelia de Lange syndrome

Averdunk, L. (2023). A case of SMC3-related Cornelia de Lange syndrome (Version 1) [DataSet]. GestaltMatcher Database.

The patient was born by cesarean section at 32 weeks of gestation, with marked intrauterine growth retardation, weighing 1600 grams and measuring 39 cm in length at birth. The patient achieved the ability to sit unsupported at the age of 1 year and was able to walk independently by the age of 2.5 years. During the early years of life, the patient underwent multiple surgical procedures including repair of a cleft palate, treatment for pyloric stenosis, operative intervention for a bone-anchored hearing aid, gastric tube placement, and dental rehabilitation. At the last follow-up, when the patient was 16 years old, he was able to comprehend simple commands and assist with basic household tasks. Despite these abilities, he remained non-verbal. The patient exhibited microcephaly and distinct facial dysmorphic features including synophrys (unibrow), a flat philtrum, a thin upper lip, and ptosis more pronounced on the left eye than the right. His hands were small and tender, with proximally placed thumbs. Ophthalmological examination revealed severe hyperopia measured at -12 diopters.