Osteopathia Striata with Cranial Sclerosis

Alternative Names

  • OSCS
  • Hyperostosis Generalista with Striations
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

300373

Mode of Inheritance

X-linked dominant

Gene Map Locus

Xp11.2

Description

Osteopathia Striata with Cranial Sclerosis is a rare bone dysplasia characterized by linear striations mainly affecting the metaphyses of the long bones and the pelvis, in combination with macrocephaly and cranial sclerosis. Apart from these cardinal signs of the condition, there are several other features that show a wide amount of variability between patients. Facial features, such as hypertelorism, flat nasal bridge and nasal obstruction, frontal bossing, large head, hypoplastic maxilla, palate anomalies may be present. Other clinical features that may be present include hearing deficit, developmental delay, intellectual impairment, vertebral anomalies, particularly scoliosis and spondylolisthesis, cranial nerve palsies and nervous system malformations, and cardiac malformations, including VSD, and aortic stenosis. The vertical striations first begin to appear between 5-months and 6-years of age.

Diagnosis is based on clinical examinations, and supported by radiological examination. Since macrocephaly is a distinct feature of the condition, severe cases can be diagnosed by prenatal ultrasound examination. The striations themselves are of little clinical significance. However, the cranial sclerosis, and vertebral and cardiac anomalies can be debilitating. There is no cure for the condition. Only supportive management is available, aiming at providing symptomatic management of complications.

Molecular Genetics

Mutations in the Wilms Tumor Gene (WTX) have been found to cause OSCS. Since the WTX gene is located on the X chromosome, the condition follows an X-linked dominant mode of transmission with complete penetrance and variable expressivity. The WTX gene is a repressor of WNT signaling, which in turn plays a key role in cell-cell interactions during embryogenesis, and in the regeneration of tissues in adult organisms. It is also known to play an anabolic role in bone formation by osteoblasts, and perturbation of this pathway is known to be involved in other sclerosing bone dysplasias.

Epidemiology in the Arab World

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Other Reports

Kuwait

Al-Naggar et al. (2004) described the first case of OSCS in Kuwait. This female child was born to distantly related Bedouin parents. Both parents were healthy, as were nine older siblings. Pregnancy was complicated by polyhydramnios and early preeclampsia. At birth, she was noted to have craniofacial dysmorphism, a broad forehead with frontal bossing, bitemporal recession, triangular skull, widely opened anterior fontanel, hypertelorism, telecanthus, epicanthal folds, a wide nasal bridge, high arched palate, and wide spaced nipples. She had a VSD resulting in a pancystolic murmur, and laryngotracheomalacia leading to noisy breathing. At 1-year of age, she was found to have length and weight below the 3rd centile, while OFC was greater than 75th centile. By this time, she had psychomotor retardation. From the age of 2-years, she started to suffer from epileptic fits, requiring hospitalizations. Radiological analysis revealed macrocephaly with sclerosis of the base of the skull, overgrowth of craniofacial bones, widening of metaphyseal bones with linear striations, elongated clavicles, and scoliosis of spine. CT head revealed mild ventricular dilatation. There was bilateral impairment of hearing, and an abnormal EEG. Al-Naggar et al. (2004) thought that this case could have a dominant mode of inheritance, and recommended molecular study to further understand the genetics of the condition.

[Al-Naggar RL, Al-Awadi SA, Gouda SA, Ahmed HF, Bastaki LA. Osteopathia striata with cranial sclerosis: a brief clinical report on a Bedouin girl. Egypt J Med Hum Genet. 2004; 5(1):97-102.]

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