European Journal of Human Genetics

TABLE 1

FROM:

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis

Rob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, Judith Goodship, Hanne Hove, Susanne Kjaergaard, Helena Kemp, Helen Kingston, Peter Lunt, Sahar Mansour, Ruth McGowan, Kay Metcalfe, Catherine Murdoch-Davis, Mary Ray, Marlène Rio, Sarah Smithson, John Tolmie, Peter Turnpenny, Bregje van Bon, Dagmar Wieczorek and Ruth Newbury-Ecob

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Table 1. Clinical features of reported and previously reported patients with BOS

 Previously reportedOur patients
Gender7 Male: 9 female4 Male: 10 female
Death <2 years8/164/14
   
Clinical
Feeding difficulties/FTT14/1414/14
IUGR14/1611/14
Severe/profound LD10/1014/14
Recurrent infections5/1211/14
Seizures7/116/14
Arrhythmias4/110/14
Apneas7/124/14
   
Craniofacial
Microcephaly9 primary/4 secondary4 primary/10 secondary
Trigonocephaly1612
Micro/retrognathia1213
Flammeus nevus1612
Prominent eyes1414
Abnormal palate1510
Hypertelorism89
Upslanting palpebral fissures137
Epicanthal folds15
Broad alveolar ridges811
Cleft/notch Lip92
Cleft palate7 unilateral/3 bilateral2 unilateral/1 bilateral
Buccal frenulae40
Depressed nasal bridge167
Anteverted nares108
Low-set posteriorly rotated ears148
   
Ophthalmic
Strabismus78
Anterior chamber abnormalities24
Myopia28
Retinal/optic nerve abnormalities135
   
Hair/skin
Low hairline147
Hypertrichosis85
   
Neurological/skeletal
BOS posture1614
Fixed contractures108
Congenital dislocations55
Hypotonia17
Hypertonia61
Brain abnormalities129
   
Other
Genital abnormalities51
Renal abnormalities31
Cardiac abnormalities77

 Abbreviations: BOS, Bohring–Opitz syndrome; FTT, failure to thrive; IUGR, intauterine growth restriction (birthweight <10th centile); LD, learning difficulties.

 Bold-suggested diagnostic criteria.

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