Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report

Abstract

A clinical case of a unique combination in a patient of a com­bination of rare genetic diseases — imperfect osteogenesis and Escobar syndrome is presented. Imperfect osteogenesis (os­teogenesis imperfecta, congenital fragility of bones, periosteal dystrophy, intrauterine rickets, osteopsaturosis, Lobstein-Wolff disease, «crystal» disease) [Q 78.0] — heterogeneous hereditary disease, with a frequency in the population from 1–7.2:10 000 to 1:20 000. Characterized by a violation of the synthesis of type I collagen. Clinically manifested by multiple fractures and the development of progressive deformities of long bones of extremities, some variants of the disease are accompanied by the presence of blue sclera and progressive deafness. Es­cobar syndrome (multiple pterygium syndrome, Multiple pte­rygium syndromes, OMIM 265 000) is an orphanic hereditary disease, the incidence is unknown. Clinical manifestations — cervical, antecubital, popliteal pterygiums, multiple contrac­tures of joints, excessive skin folds in the axilla and between the fingers, congenital or early manifested scoliosis or kypho­scoliosis, the presence of hemivertebra, partial fusion of ver­tebral bodies, cryptorchidism and hypogonadism in boys, fetal akinesia, low hair growth at the back of the head, deformity of the feet as a «rocking-stop», intrauterine growth retardation, small growth, craniofacial dysmorphisms (micrognathia), anti­monyholoidal incision of the eyes (displacement of the medial edges of the optic gaps upwards) with epicanthus or without it, ptosis, arachnodactyly, respiratory distress syndrome (due to hypoplasia of the lung tissue), cleft hard and soft palate, low set eyes. Intellectual development, as a rule, does not suffer. Treatment is complex: correction of metabolic disorders, surgi­cal interventions to eliminate deformities of limbs, cleft palate, pterygium.