ESPE Abstracts (2016) 86 P-P2-664

Case Report of SHOX Gene Haploinsufficiency Diagnosed in Early Infancy

Gabriella Cinzia Pozzobon, Dario Gallo, Chiara Damia, Cristina Partenope, Gemma Marinella, Sara Osimani, Roberta Pajno & Giovanna Weber


San Raffaele Hospital, Milan, Lombardy, Italy


Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.

Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.

Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.

Results: The first 1.3 years girl was born on term, SGA for weight (−1.9 SDS) and length (−1.77 SDS) with a family history of short stature in both parents (T-Ht −2.6 SDS). Physical examination revealed rhizomelic body disproportion, H −3.96 SDS, Span/H ratio 90%, SH/H ratio 63%. Hypochondroplasia was ruled out by Rx vertebral column and limbs, that did not reveal any radiological sign. SHOX gene MLPA in her and her father revealed c.463G>C mutation in heterozygosys, already described in X-chromosome gene database. The second 1.2 yeas girl was born on term, AGA, with a prenatal finding of short femur. Physical examination revealed relative macrocephaly, prominent frontal bossing, depressed nasal root and rhizomelic aspect of upper limbs, L −2.11 SDS, no family history of short stature (T-Ht 0.18 SDS). She undergone FGFR3 analysis which result normal. SHOX gene analysis showed c.728 dup in heterozygosis cause of frameshift mutation.

Conclusion: SHOX deficiency leads to short stature with variable phenotype that is frequently nonspecific in early childhood. There is not consensus on time and auxological criteria to start therapy with GH and if It could affect final height.

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