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Objective: Describe the clinical and radiological findings of two patients with type 1 geleophysical dysplasia, discussion ofdifferential diagnoses, natural history and molecular findings.
Clinical case: A full-term newborn, with a history of polyhydramnios, small for gestational age, wasassessed at 20 hours of life, who presented limitation of joint movements, with short fingers and toes,thick and rough skin. At four months of age, laboratory tests reported: decrease in growth hormone 0.90ng / ml (1-9 ng / ml) and insulin-like growth factor type 1 <40 ng / ml (49-327 ng / ml) with persistence ofshort stature, below the 3rd percentile. The molecular study reported two variants that was homozygous c.[215G> A] + [340G> A] in the gene ADAMTSL2, for geleophysical dysplasia type 1.
The second case is a 72-hour-old newborn, half-brother of the first case, who presented clinical findingsthat coincide with the first, except that he also presented a bicuspid aortic valve; both cases of the samefather with a different partner.
Conclusion:Patients withtype 1 geleophysical dysplasia are cases of interest because they are a rare diagnosisin pediatric age and clinical suspicion can be generated from thecardinal clinical findings described,corroborated with the molecular study and complemented with the preparation and interpretation of familygenealogy.
Referencias
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