ESPE2022 Poster Category 2 Growth and Syndromes (44 abstracts)
Acromelic dysplasia is a rare inherited bone dysplasia with 2 subtypes acromicric and gelophysic dysplasia. The prevalence is estimated <1/1 000 000, This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive pattern due to ADAMTSL2 mutations characterised by growth drawfism, disproportionate short hands and feet, mild facial abnormalities, and characteristic x ray bones abnormalities. The condition appered to be sporadic but in our case report we describe a familial abnormalities. This is a 14-year-old patient from unrelated parents ; reffered for growth retardation he had a history of placement of trans tympanic ventilation tubes at 12years of age, with no hearing improvement complicated by vocal cords paralysis, during intubation with implementation of a tracheotomy cannula. Our patient and his mother have the same clinical abnormalities : short stature with pseudomuscular appearance, short extremities, thick skin, facial abnormalities with a round face and jovial air, a short nose with anteverted nares, a wide nasal ridge, a long and flattened philtrum, a thin upper lip and narrow palpebral fissures. Typical radiological signs are: short metacarpals, thick proximal phalanges, cone epiphyses, long tubular bones shortened and stocky, small femoral head, hip dysplasia, vertebral abnormalities as moderate platyspondyly. A genetic study is requested to confirm the genetic mutation. Conclusion : The suspicion of an acromelic dysplasia should lead to the referral of the patient to the endocrinologist pediatrician in order to confirm the diagnosis and put in place appropriate management and monitoring measures to prevent respiratory and cardiac complications.
15 Sep 2022 - 17 Sep 2022