Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3-generation family.

Haplo-insufficiency of the TGFß-activated kinase 1 binding protein 2 (TAB2) gene is associated with short stature, facial dysmorphisms, connective tissue abnormalities, hearing loss, and cardiac disease. Skeletal dysplasia and sacral dimples are also found in a minority of patients. Here, we describe a 3-generation family with caudal appendage, other sacral anomalies, and skeletal abnormalities including hypoplasia of the iliac wings and scapulae, fusion of the carpal bones and stenosis of the spinal canal, as well as a remarkable course of prenatally-detected cardiomyopathy with characteristics changing over time. Genetic analysis showed a heterozygous nonsense variant in the TAB2 gene.

[Subgaleal hematoma in paediatric patients; a swelling on the head due to traction during hair styling]. / Subgaleaal hematoom bij een ouder kind.

BACKGROUND: In this article we describe an underexposed cause of subgaleal hematoma in the older child. Subgaleal hematomas are well-known in the context of trauma or blood clotting disorders. International literature acknowledges excessive force during hair styling as a possible cause. Here, we present two cases to illustrate the importance of a complete patient work-up. CASE DESCRIPTION: Recently, two patients presented themselves at Juliana Children's Hospital, the Hague, the Netherlands, with a swelling on the head and headache with no obvious cause. Radiological imaging showed subgaleal hematomas. Upon questioning, both patients mentioned using extensive traction while styling their hair. CONCLUSION: In conclusion, when analysing an older child with a swelling on the head with no obvious cause, consider the diagnoses subgaleal hematoma due to hair traction. It might be helpful to observe them styling their hair. A proper clinical review can therefore prevent over-testing and overtreatment.