Presentation
Males can present with a mild or severe phenotype. [ncbi.nlm.nih.gov]
Entire Body System
- Developmental Delay
delays ~30% Severe developmental delay is rare. [ncbi.nlm.nih.gov]
Musculoskeletal
- Macrocephaly
Macrocephaly is observed in approximately 50% of males with the severe phenotype as either absolute or relative macrocephaly. Orofacial clefting. [ncbi.nlm.nih.gov]
Face, Head & Neck
- Hypertelorism
Frontal bossing, hypertelorism, depressed nasal bridge, and micrognathia have been described [Holman et al 2011, Perdu et al 2011, Quélin et al 2015, Vasiljevic et al 2015]. Musculoskeletal. [ncbi.nlm.nih.gov]
Treatment
Cognition Early intervention services & special education services as indicated Cardiac anomalies Treatment per cardiologist Genitourinary anomalies Treatment per urologist &/or nephrologist Gastrointestinal anomalies Treatment per gastroenterologist [ncbi.nlm.nih.gov]
Pathophysiology
Pathophysiology Metaphyseal striations are hypothesized to be due to the presence of two independently acting osteoblast cell lines [Rott et al 2003]. [ncbi.nlm.nih.gov]