Abstract
BackgroundAcroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and advanced bone age. To date, reports on this disorder have focused on phenotypic findings, endocrine changes, and genetic variation. We present a 14-year overview of a patient, from birth to skeletal maturity, with acroscyphodysplasia, noting the significant orthopaedic challenges and the need for a multidisciplinary team, including specialists in genetics, orthopaedics, endocrinology, and otolaryngology, to optimize long-term outcomes.Case presentationThe patient presented as a newborn with dysmorphic facial features, including severe midface hypoplasia, malar flattening, nasal stenosis, and feeding difficulties. Radiologic findings were initially subtle, and a skeletal survey performed at age 7 months was initially considered normal. Genetic evaluation revealed a variant in PDE4D and subsequent pseudohypoparathyroidism. The patient presented to the department of orthopaedics, at age 2 years 9 months with a leg length discrepancy, right knee contracture, and severely crouched gait. Radiographs demonstrated cone-shaped epiphyses of the right distal femur and proximal tibia, but no evidence of growth plate changes in the left leg. The child developed early posterior epiphyseal arrest on the right side and required multiple surgical interventions to achieve neutral extension. Her left distal femur developed late posterior physeal arrest and secondary contracture without evidence of schypho deformity, which improved with anterior screw epiphysiodesis. The child required numerous orthopaedic surgical interventions to achieve full knee extension bilaterally. At age 13 years 11 months, she was an independent ambulator with erect posture. The child underwent numerous otolaryngology procedures and will require significant ongoing care. She has moderate intellectual disability.Discussion and conclusionsKey challenges in the management of this case included the subtle changes on initial skeletal survey and the marked asymmetry of her deformity. While cone-shaped epiphyses are a hallmark of acrodysostosis, posterior tethering/growth arrest of the posterior distal femur has not been previously reported. Correction of the secondary knee contracture was essential to improve ambulation. Children with acroscyphodysplasia require a multidisciplinary approach, including radiology, genetics, orthopaedics, otolaryngology, and endocrinology specialties.
Highlights
Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism
First reported in 1968, acrodysostosis is a group of rare autosomal dominant genetic disorders [2] that present with skeletal, endocrine, and neurological features encompassing a broad range of skeletal dysplasias [3]
The skeletal features may include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and advanced bone age [3], which characterize a spectrum of disorders, including Albright’s Hereditary Osteodystrophy (AHO), pseudohypoparathyroidism (PHP) type 1, pseudopseudohypoparathyroidism (PPHP), and metaphyseal acroscyphodysplasia [4, 5]
Summary
We presented the 14-year history of a child with acroscyphodysplasia, emphasizing the challenges of early clinical and radiographic diagnosis, with particular focus on the management of the complications associated with cone-shaped epiphyses. The existing literature emphasizes the genetics and pathophysiology of this disorder, but fails to address the significant impact that growth arrest, cone-shaped epiphyses, and the resultant deformities can have on patient mobility. It is important to note that our patient had relatively mild PHP, which was corrected with minimal doses of calcitriol and calcium carbonate It is unclear how much of an impact the iPTH levels played in her advanced bone age, development of coneshaped epiphyses or premature closure of the distal femoral posterior growth plates. Cone-shaped epiphyses are often noted as a normal variant without long-term issues They are described in numerous dysplasias/syndromes and can be secondary to injury to the physis, either infection or infarction. A multidisciplinary approach involving radiology, genetics, otolaryngology, orthopaedics, and endocrinology is crucial for the correct diagnosis and longterm management of these patients
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