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Frontometaphyseal dysplasia (Gorlin-Cohen syndrome) as an example of rare X-link skeletal disorder – clinical description of two cases with late diagnosis

Robert Śmigiel1, Jacek Pilch2, Magdalena Millan3, Maria M. Sąsiadek3

Affiliacja i adres do korespondencji
Pediatr Med rodz Vol 9 Numer 4, p. 367–373
Streszczenie

Frontometaphyseal dysplasia, known as Gorlin-Cohen syndrome, is a rare entity inherited as X-link dominant trait caused by FLNA gene (Xq28) mutations. FLNA mutations are responsible for several known clinical entities with heterogeneous symptoms (pleiotropism). Gorlin-Cohen syndrome is characterized by: skeletal defects of cranium and metaphysis of long bones, osteoporosis, thorax and sternum deformations, platyspondyly, limited movement and flexion deformity of elbows and wrists, scoliosis, typical craniofacial, hands and feet dysmorphism as well as intellectual disability in part of cases, deafness, ophthalmological problems, malocclusion of teeth and following oligodontia. An obstructive uropathy and cardiological disturbances are reported to occur in adults with frontometaphyseal dysplasia. We report cases of very late diagnosed two patients with frontometaphyseal dysplasia. Performed molecular tests confirm the clinical diagnosis. Additionally, we present a clinical follow-up of frontometaphyseal dysplasia and a review of literature. There was diagnosed a pathogenic point mutation in exon 45 of gene FLNA – 7267C>T – causing a change of amino acids: proline to serine in position 2423 of amino acid chain in patient 1 as well as a point mutation in position c.745G->T, causing a change of amino acid sequence of FLNA protein (p.Asp249Tyr) in patient 2. In both  cases a carriership of mutation in patient’s mother were found (heterozygous status). There were no clinical symptoms typical for frontometaphyseal dysplasia in both mothers of presented patients.

Słowa kluczowe
frontometaphyseal dysplasia, Gorlin-Cohen syndrome, skeletal defects, craniofacial dysmorphism

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