DOOR syndrome (deafness, onycho‐osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases

Lin, Henry J.; Kakkis, Emil; Eteson, Donna Jane; Lachman, Ralph S.

doi:10.1002/ajmg.1320470419

Cited by 15 publications

(18 citation statements)

References 9 publications

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“…The DOOR(S) syndrome (deafness, onychodystrophy, osteodystrophy, retardation and for some authors seizures, adding an S to DOOR) shares radiographic and clinical features with TBS; long thumbs, broad big toes, ptosis, broad nasal bridge, long philtrum and downturned corners of the mouth and abnormal phalanges in the first ray. Triphalangism in the first rays is present in about 1/3 of DOOR syndrome case [Lin et al, 1993] and it could be argued that triphalangism is a developmental equivalent to the pseudoepiphysis found in TBS. DOOR patients present mild or severe developmental and mental delay (with regression in motor milestones documented in some patients).…”

Section: Discussionmentioning

confidence: 99%

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

Jacquinet

Gérard

Gabbett

et al. 2010

American J of Med Genetics Pt A

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Temple-Baraitser syndrome, previously described in two unrelated patients, is the association of severe mental retardation and abnormal thumbs and great toes. We report two additional unrelated patients with Temple-Baraitser syndrome, review clinical and radiological features of previously reported cases and discuss mode of inheritance. Patients share a consistent pattern of anomalies: hypo or aplasia of the thumb and great toe nails and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. All patients were born to unrelated parents and occurred as a single occurrence in multiple sibships, suggesting sporadic inheritance from a de novo mutation mechanism. Comparative genomic hybridization in Patients 1, 2 and 3 did not reveal any copy number variations. We confirm that Temple-Baraitser syndrome represents a distinct syndrome, probably unrecognized, possibly caused by a de novo mutation in a not yet identified gene.

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Section: Discussionmentioning

confidence: 99%

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

Jacquinet

Gérard

Gabbett

et al. 2010

American J of Med Genetics Pt A

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“…The disease "deafness and onychodystrophy" (DOD) is usually classified into two genetically distinct groups, an autosomal recessive form -DOOR (deafness, onychoosteodystrophy, mental retardation) syndrome (MIM *220500a) (Cantwell 1975;Sanchez et al 1981;Lin et al 1993) and a dominant (D) form (DDOD, MIM *124480) (Robinson et al 1962). Clinically, patients with DOOR syndrome show features such as severe-to-mild mental retardation, seizures, mutism, hypotonia, congenital sensorineural deafness, triphalangeal thumb, and hypoplastic nails.…”

Section: Introductionmentioning

confidence: 99%

Autosomal dominant onychodystrophy and congenital sensorineural deafness

et al. 1999

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The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth. The autosomal dominant form of the disorder has been previously reported only in one family. We describe here another family in which three members in three generations (a girl, her mother, and her maternal grandfather) were affected with DOD. Our finding is consistent with an autosomal dominant mode of inheritance and confirms autosomal dominant DOD (DDOD, MIM *124480) as a recognizable clinical entity.

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“…Examination of the hands reveals small or absent nails in all cases. Fingernails I and/or V are often absent, while others are hypoplastic [Walbaum et al, 1970; Sanchez et al, 1981; Lin et al, 1993; Felix et al, 2002]. The thumb may be long, “fingerlike” with an extra flexion crease and bulbous terminal phalange.…”

Section: Resultsmentioning

confidence: 99%

“…The DOOR acronym was formalized in 1974 in a case report of a woman with profound mental retardation, sensorineural deafness, and anomalies of the digits and nails [Cantwell, 1975]. The majority of patients with DOOR syndrome have elevated levels of 2‐oxoglutaric acid in the urine and plasma [Patton et al, 1987]; however this is not a consistent finding among all reports [Lin et al, 1993; Bos et al, 1994; Felix et al, 2002]. Those with DOOR syndrome were found in a case‐control study to have decreased activity of the E1 component of the 2‐oxoglutarate dehydrogenase complex, a finding that has not yet been repeated [Surendran et al, 2002].…”

Section: Introductionmentioning

confidence: 99%

DOOR syndrome: Clinical report, literature review and discussion of natural history

James

Miranda

Culver

et al. 2007

American J of Med Genetics Pt A

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DOOR syndrome (deafness, onychodystrophy, osteodystrophy, and mental retardation) is a rarely described disorder with less than 35 reports in the literature. The hallmarks of the syndrome, represented in the DOOR acronym, include sensorineural hearing loss, hypoplastic or absent nails on the hands and feet, small or absent distal phalanges of the hands and feet, and mental retardation. The purpose of our communication is to report on an additional patient with DOOR syndrome, delineate common as well as less frequent manifestations of DOOR syndrome, bring attention to the under appreciated facial features in DOOR syndrome, document the natural history of this disorder, and propose a suggested workup of those suspected of DOOR syndrome. DOOR syndrome is associated with characteristic, coarse facial features with large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. The natural history is one of a deteriorative course, with progressive neurological manifestations including sensorineural deafness, seizures from infancy, optic atrophy, and a peripheral polyneuropathy. The majority of patients with DOOR syndrome have elevated levels of 2-oxoglutarate in the urine and plasma. In this report, we present a newborn with manifestations consistent with DOOR syndrome and a progressive clinical course. A comprehensive literature review reveals 32 patients with DOOR syndrome. In conclusion, DOOR syndrome is a neurometabolic disorder with recognizable facial features and a progressive natural history.

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DOOR syndrome (deafness, onycho‐osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases

Cited by 15 publications

References 9 publications

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

Autosomal dominant onychodystrophy and congenital sensorineural deafness

DOOR syndrome: Clinical report, literature review and discussion of natural history

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