A 2-year-old child is diagnosed with congenital scoliosis. Radiographs demonstrate a unilateral unsegmented bar with a contralateral hemivertebra at the same level. What is the most likely long-term prognosis for this specific spinal anomaly?
A 2-year-old boy is brought in for gait abnormalities and short stature that have become apparent since he started walking. He was of average size at birth. Examination reveals marked short-limbed short stature, generalized joint laxity, and broad hands that deviate in an ulnar direction. Which of the following is the most likely diagnosis?
A genetics clinic is evaluating a family with a severe, progressive deforming form of osteogenesis imperfecta. Analysis of dermal fibroblast-derived collagen shows a structural defect. The pathogenic missense variant causes a substitution of a crucial glycine residue. Which location for this glycine substitution is associated with the most severe and potentially lethal phenotype?
A 10-year-old boy is evaluated for tall stature. Examination reveals dolichostenomelia, pectus excavatum, pes planus, and a positive wrist sign. Echocardiogram is pending. His ophthalmologist recently diagnosed ectopia lentis. Which of the following is the most likely diagnosis?
A 12-year-old female is incidentally found to have a congenital fusion of her C2 and C3 vertebrae on imaging obtained for an unrelated reason. She has a short neck and a low posterior hairline. As part of her evaluation for Klippel-Feil syndrome, which screening study is routinely indicated to assess for common associated anomalies?
A newborn girl is noted to have very short extremities, clubfoot, and proximally displaced thumbs giving a “hitchhiker” appearance. Shortly after birth, her external ears become inflamed, which resolves spontaneously, leaving a fibrotic, contracted “cauliflower” appearance. This infant’s condition is caused by pathogenic variants in a gene that encodes which of the following?
A 6-month-old infant is diagnosed with the severe, infantile-onset form of autosomal recessive osteopetrosis due to a pathogenic variant in OSTM1. He has macrocephaly, hepatosplenomegaly, and vision loss. The family is being counseled on treatment options. In addition to hematopoietic stem cell transplantation (HSCT), which of the following therapies has been used to delay disease progression in patients with severe malignant infantile osteopetrosis?
An 8-year-old girl presents with her third long bone fracture in the past two years, all from minor trauma. Her height and weight are at the 25th percentile. A dual-energy x-ray absorptiometry (DXA) scan reveals a lumbar spine bone mineral density (BMD) Z-score of -2.5. Her serum calcium, phosphorus, and vitamin D levels are normal. According to the diagnostic criteria, what is the most appropriate next step in her evaluation?
A 1-year-old child with arthrogryposis has severe bilateral hip dislocations, stiff extended knees, and rigid clubfeet. The family and surgical team have decided to proceed with operative correction of the lower extremity deformities to maximize ambulatory potential. What is the typical sequence of surgical management for the lower limbs in this patient?
A 10-year-old girl with congenital fibular hemimelia has a current leg-length discrepancy of 3 cm. Her bone age is 8 years. Her projected discrepancy at maturity is 7 cm. Which of the following is the most appropriate management strategy?
