Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.
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Child, Preschool↗
Biomedical subjects
Joe J Hoo
Publications and source records attributed to Joe J Hoo.
Difficulty in recognizing multiple sulfatase deficiency in an infant.
We describe the difficulty in recognizing multiple sulfatase deficiency (MSD; Online Mendelian Inheritance in Man [OMIM] database No. 272200) in an infant. MSD is a rare autosomal recessive disorder that affects the posttranslational activation of various sulfatase enzymes. It is both biochemically and clinically variable. Currently, there are 12 known sulfatases in humans, and the clinical presentation of MSD is a unique composite of those individual enzyme defects. Here we report a black girl who presented with bilateral broad thumbs and great toes, both with angulation deformities at birth. Rubinstein-Taybi syndrome (OMIM No. 180849) was considered initially. The detection of inclusion bodies in her white blood cells at 37 months of age led to the appropriate diagnostic workups for lysosomal storage diseases. Elevation of urine mucopolysaccharides provided additional clues, and the fibroblast enzyme assays finally established the diagnosis. Broad thumbs and great toes are rare features of MSD, and to the best of our knowledge such a bilateral congenital anomaly with angulation deformities has never been reported before to be associated with MSD.
Diagnosis, Differential↗
A TNNI2 mutation in a family with distal arthrogryposis type 2B.
Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13. Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that would be predicted to result in the deletion of a glutamic acid at codon position 167 (DeltaE167). This mutation, like the two previously described TNNI2 mutations, is located in the carboxy-terminal domain and thus supports the existence of a TNNI2 critical region sensitive to alteration that will give rise to DA. Physical examination of family members confirms the high degree of variability in expression amongst mutation carriers.
Arthrogryposis↗
Familial hyper- and hypopigmentation with age-related pattern change.
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Adult↗
Is brachydactyly type Ballard a variant of brachydactyly type E?
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Adolescent↗
Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.
A brother and a sister affected with brachyolmia (short trunk) are reported. Their radiological findings are compatible with brachyolmia, Hobaek type, which is characterized by platyspondyly, horizontal acetabular roof, short femoral neck, and vertical "mixed lucent and dense" striation pattern in the metaphyses of large long bones. Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent. Beyond puberty, the patients are short in stature, mainly due to a short trunk with decrease upper and lower body segment ratio. Brachyolmia type Hobaek is a relatively benign condition. It may cause a mild and nonspecific backache that usually is not debilitating. The inheritance mode is apparently autosomal recessive.
Adolescent↗