Abstract
An anthropometric study was performed on 40 Caucasian children with familial short stature (FSS) and conpared with 40 age-, race-, and sex-matched children with normal height (C-NH), and 250 adolescent girls with normal height (AG-NH). Anthropometric measurements were also obtained on 30 short parents of the FSS (P-SS) and compared with 26 normal height parents of the FSS (P-NH) and 33 normal height adults (Ad-NH). Brachymetacarpy V, rhizomelia, and short upper and lower limbs were highly prevalent among the FSS patients as compared to the control groups. Brachymetacarpy V was present in 75% of FSS whereas only 28% of C-NH and 33% of AG-NH had this trait (P<0.01). Among the FSS patients 42% had rhizomelia, 38% had short arms, and 65% had short legs whereas in the normal height children only 15% had rhizomelia, 12% had short arms and 30% had short legs (P<0.01). Brachymetacarpy V was also more prevalent among the P-SS than among the Ad-NH (73% vs 33%)(P<0.05). Rhizomelia and short limbs also appeared to be more prevalent in the P-SS than in the two other adult groups. The concomitant presence of more than one type of tubular bone alteration was more commonly seen in the FSS groups than in the control groups. All affected FSS patients had one or two affected parents suggesting a possible autosomal dominant mode of inheritance. The high prevalence of tubular bone alterations in FSS patients suggests that an altered tubular bone elongation or endochondral ossification is probably responsible for short stature in a large proportion of these families.
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Cervantes, C., Lifshitz, F. TUBULAR BONE ALTERATIONS IN FAMILIAL SHORT STATURE. Pediatr Res 21 (Suppl 4), 225 (1987). https://doi.org/10.1203/00006450-198704010-00353
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DOI: https://doi.org/10.1203/00006450-198704010-00353
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