Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Ind
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Genes and skin Retno DANARTI1 Shinta RAHMAYANI1 Yohanes Widodo WIROHADIDJOJO1 WenChieh CHEN2,3, 1
Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/ Dr. Sardjito Hospital Yogyakarta, Indonesia 2 Department of Dermatology and Allergy, Technische Universität München, Munich Germany 3 Department of Dermatology, Pingtung Hospital, Ministry of Health and Welfare, Taiwan
Reprints: Retno Danarti
Article accepted on 27/03/2020
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Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature Background: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficit, and seizures. The disease is caused by homozygous or compound heterozygous mutation in the TBC1 domain family member 24 (TBC1D24) gene (gene locus/MIM 613577) on chromosome 16p13. Objectives: We report the first case of DOORS syndrome from Indonesia. Materials and Methods: A review of the literature was conducted and cases compared. Results: A 27-day-old baby girl was brought to us with a history of recurrent seizures and absence of all fingerand toenails since birth. In addition, physical examination revealed left eye strabismus and a single transverse palmar crease on both hands. X-rays of the hands and feet showed absence of the distal phalanx of her right and left fingers II-V and the distal phalanx of her right and left toes I-V, respectively. Brainstem-evoked response audiometry test revealed profound bilateral sensorineural deafness. Pentalogy of Fallot was diagnosed by echocardiography, while an abnormal diffuse epileptiform pattern was found on electroencephalography. Conclusion: This is the first report of an association between pentalogy of Fallot and single transverse palmar crease in DOORS syndrome. Key words: DOOR syndrome, DOORS syndrome, pentalogy of Fallot, single transverse palmar crease, TBC1D24 mutation
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the 7p14-13 gene, causing a disorder in the decarboxylation of ketoglutarate [16]. Mutations in Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) seem to be an important cause of DOORS syndrome leading to diverse phenotypes [28, 30]. No cases of DOORS syndrome have been described from Indonesia to date.
Case report A 27-day-old baby girl was presented to our Policlinic in 2013 with recurrent seizures and absence of finger- and toenails since birth. The baby was the only child from a non-consanguineous 22-year-old mother and 23-year-old father, born at full term by normal vaginal delivery at gestation week 39, with length of 49 cm, head circumference of 30 cm and weight of 3.5 kg. There was no history of polyhydramnios, or perinatal or neonatal problems. A family history of any intellectual disability, seizures, congenital defects, or genetic disorders was
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