Introduction DOOR syndrome was an acronym first suggested by Cantwell in 1975 to describe a constellation of findings including deafness, onychodystrophy, osteodystrophy, and retardation. It is a genetically heterogeneous condition with both autosomal recessive and dominant forms. The deafness and onychodystrophy are common to both forms, but mental retardation is a feature of the recessive form. A number of patients with the recessive form have had elevated 2-oxoglutarate levels in plasma and urine and one study showed a correlation between the elevated levels and decreased activity of the 2-oxoglutarate decarboxylase enzyme (E10). It has been suggested that elevation of this compound may be associated with a more severe, and even lethal, phenotype. We present a patient who possesses the cardinal features of DOOR syndrome but who has additional dysmorphic features.
Case The baby was born at 36 weeks' gestation to a 32-year-old G4 P2-3 female. Birth weight and length were both < 10th centile. Work-up for a congenital infection was negative. Relevant findings were an ASD and VSD at 1 month of age and conductive hearing loss at 2 months. At 3 months of age, growth parameters were all less than the 3rd centile. Her exam showed brachycephaly, a large fontanel, narrow and upslanting palpebral fissures, a bulbous nasal tip with anteverted nares, a smooth philtrum, thin upper lip, brachydactyly, hypoplastic thumbs, and hypoplastic finger and toenails. She was developmentally delayed with poor head control. Chromosome analysis showed a normal female karyotype and urine organic acids were normal with no elevation of 2-oxoglutarate. A skeletal survey in the newborn period showed absent and hypoplastic ossification centers of the fingers and toes. Family history was noncontributory.
Conclusion The diagnosis of DOOR syndrome is based on clinical examination as the pathogenesis is unknown and there is no cytogenetic or molecular testing. We consider that our patient has DOOR syndrome because of onychodystrophy, delayed ossification of the phalanges, deafness, and developmental delay. In addition, there have been reports of congenital anomalies including septal heart defects. However, the dysmorphism in our patient is not typical of this condition and is unexplained. Conductive hearing loss is also less frequent than sensorineural hearing loss in DOOR syndrome. We believe that our patient may represent a less severe presentation of the autosomal recessive form of DOOR syndrome.
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