Table 2.

Osteopathia Striata with Cranial Sclerosis: Frequency of Select Features in Females and Mildly Affected Males

Feature% of Persons w/Feature 1Comment
Cranial sclerosis100%
Sclerosis of long bones100%
Metaphyseal striations~95%In females & mosaic males; not seen in constitutional males
Characteristic facial features~90%Frontal bossing, hypertelorism, epicanthal folds, depressed nasal bridge
Macrocephaly~80%Absolute or relative macrocephaly
Orofacial clefting~50%Cleft palate or cleft lip and palate
Hearing loss~50%Conductive &/or sensorineural
Mild developmental delays~30%Severe developmental delay is rare.
Congenital heart disease~25%
Wilms tumor 2~5% 3Additional malignancies reported: hepatoblastoma, adult-onset colorectal cancer, adult-onset ovarian cancer
1.

Review of approximately 90 individuals reported with OS-CS and an AMER1 pathogenic variant

2.

Association with Wilms tumor (and possibly other cancers) is an emerging feature and a significant departure from what was previously understood about the disorder.

3.

Extrapolated from recently published data [Bach et al 2021]

From: Osteopathia Striata with Cranial Sclerosis

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