Further delineation of Raine syndrome

Area of Science:

• Medical Genetics
• Pediatric Radiology
• Skeletal Dysplasias

Background:

• Raine syndrome is a rare, severe genetic disorder characterized by craniofacial and skeletal abnormalities.
• Previous descriptions often emphasize generalized osteosclerosis.

Purpose of the Study:

• To report a case of Raine syndrome in an infant from an Arab family.
• To describe the clinical and radiological features, focusing on bone density and long bone morphology.

Main Methods:

• Clinical examination of a neonate with suspected genetic disorder.
• Radiological assessment including bone density and skeletal imaging.
• Review of literature on Raine syndrome.

Main Results:

• The infant presented with severe craniofacial anomalies (wide anterior fontanelle, exophthalmos, hypoplastic midface, choanal atresia, macroglossia) and skeletal abnormalities (short limbs, small thorax).
• Radiological findings included increased bone density in specific bones, periosteal new bone formation, and marked bowing of the femurs, tibiae, and ulnae.
• Osteosclerosis was present but not uniformly severe or generalized.

Conclusions:

• Osteosclerosis in Raine syndrome can be variable and not always severe or generalized.
• Bowing of long bones is a significant and variable radiological feature of Raine syndrome.
• This case expands the understanding of radiological variability in Raine syndrome.