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Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer‐Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11. Here we describe a boy with multiple exostoses,...
Four patients from three families with the clinical features of DOOR syndrome (onycho‐osteodystrophy, dystrophic thumbs, sensorineural deafness, and increased urinary levels of 2‐oxoglutarate) are the subjects of this report. Our report deals with the autosomal recessive form of the disease,...
We report three cases of tetrasomy 9p, two of which were confirmed prenatally. All three had characteristic findings on ultrasound and at birth. We also present a review of the literature, which suggests that a recognizable phenotype for this condition is emerging. Common findings on prenatal...
Laboratory‐based reports of the cytogenetic abnormalities detected during the course of testing for deletion del(22q) are scant. We report our findings from the testing with FISH of 462 patients suspected to have del(22q) between 1994 and 2000. Of these, 447 had a normal karyotype. An...
Spondylometaphyseal dysplasias (SMD) are a heterogeneous group of bone dysplasias characterized by vertebral and metaphyseal changes of various severities. We report two unrelated patients of east African origin with a skeletal disorder consisting of 1) severe metaphyseal dysplasia of early...
The original article to which this Erratum refers was published in American Journal of Medical Genetics (2002) 108(1) 1–6
We report on the extremely rare occurrence of a stable dicentric duplication‐deletion chromosome 14 in a viable offspring with multiple malformations and developmental delay. This abnormality was derived from a maternal paracentric inversion in the long arm of chromosome 14. Both classical and...
We describe a 3½‐year‐old girl with psychomotor and mental retardation; dysmorphic features, including a high forehead with bitemporal narrowing; a broad nasal bridge and a broadened nose; downslanting palpebral fissures; abnormal ears; vertebral abnormalities; cardiac defect; genital...
A 31‐year‐old male patient with ectodermal dysplasia and acanthosis nigricans is described. Clinical findings included hypotrichosis, hypohidrosis, palmoplantar hyperkeratosis, nail dystrophy, early onset loss of permanent dentition, mental retardation, and acanthosis nigricans. The findings...
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