Bone Abstracts

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...

Background: Familial hypocalciuric hypercalcaemia type 3 (FHH3) is a genetically heterogenous autosomal dominant disorder caused by loss-of-function mutations in the AP2S1 gene. This gene encodes the alpha-2 subunit of the adaptor protein-2 complex, which facilitates endocytosis of plasma membrane constituents such as G-protein coupled receptors.Objective: It has been suggested that FHH3 may be associated with cognitive deficits (1). We assessed...

We report a male child presenting with antenatally diagnosed bilateral talipes equinovarus, short stature, bilateral cryptorchidism and poor weight gain; born at 39 weeks gestation (birth weight 2.56 kg) to non-consanguineous Caucasian parents. Facial dysmorphism included a prominent forehead, brachycephaly, shallow orbits, a high anterior hairline, a narrow nasal bridge and small mouth with a thin upper lip. He had white sclera and was short for height (−4.4 SDS) with a...

Dedicated occupational therapy and physiotherapy service for children and families with Osteogenesis Imperfecta (OI) at the Royal Manchester Children’s Hospital were set up in September 2017 to provide multidisciplinary management.Objectives: The aim is to assess if the newly established specialist paediatric occupational therapy and physiotherapy service is meeting the needs of the patients and their families.Method: A paper ...