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.
Highlights
Escobar Syndrome (Multiple pterygium synd romes, OMIM 265000) is a hereditary disease, it was first described by J
After complex research osteogenesis imperfecta associated with Escobar syndrome was diagnosed
The letal type of disea se is characterized be mutations in CHRNA1 and CHRND genes encoding alfa1- and beta-subunit acetylcholine receptor (AchR) [7, 8]
Summary
Escobar Syndrome (Multiple pterygium synd romes, OMIM 265000) is a hereditary disease, it was first described by J. There are two types of this pathology: lethal variant and non-lethal (Escobar type). Osteogenesis imperfectа (congenital bones’ fragility, periostal dystrophia, osteopsatirosis, Lobstein-Vrolik disease, «fragile» disease) [Q 78.0] is the heterogeneous hereditary disease associated with mutation of gene COL1A1 and COL1A2, has frequency between 1–7,2:10000 and 1:20000 [4, 5]. O. Sillence described four basic types of disorder according to clinical, radiologic and collagenous molecular signs [6]. Osteogenesis imperfectа is the one of constituent elements of some hereditary syndroms (Bruk’s syndrome, Levin’s syndrome etc.). Diagnostics of these lesions is based on comp lex clinical, radiologic and genetic investigations. The knowledge about the nature of these diseases can affect treatment planning and further prognosis for the patients
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