Displasia geleofísica tipo 1 en una familia con mutación en el gen ADAMTSL2.
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| Title: | Displasia geleofísica tipo 1 en una familia con mutación en el gen ADAMTSL2. |
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| Alternate Title: | Geleophysic dysplasia type 1, in a family with mutation in the gene ADAMTSL2. |
| Authors: | Guapi Nauñay, Víctor Hugo1 (AUTHOR) victor_hg7@hotmail.com, Calvache Burbano, Angélica María2 (AUTHOR), Leone Campo, Paola Elizabeth3 (AUTHOR) |
| Source: | Universitas Médica. oct-dic2022, Vol. 63 Issue 4, p1-9. 9p. |
| Abstract (English): | Introduction: Geleophysic dysplasia is a heterogeneous disorder of connective tissue, characterized by short stature, small hands and feet, limited joint movements. With locus heterogeneity and autosomal recessive inheritance. Objective: To describe the clinical and radiological findings of two patients with type 1 geleophysic dysplasia, discussion of differential diagnoses, natural history and molecular findings. Clinical cases: Term newborn, with a history of polyhydramnios, small for gestational age, was assess at 20 hours of life, who presented limitated of joint movements, with short fingers and toes, thick and rough skin. At four months of age, laboratory tests reported: decreased growth hormone 0.90 ng / ml (1-9 ng / ml) and insulin-like growth factor type 1 <40 ng / ml (49-327 ng / ml) with persistence of short stature, below the 3rd percentile. The molecular study reported a variant that was compound heterozygous c.[215G>A] + [340G>A] in the gene ADAMTSL2, for type 1 geleophysic dysplasia. The second case is a 72-hour-old newborn, half-brother of the first case, who presented clinical findings that consistent with the first, except that he also presented a bicuspid aortic valve; both cases of the same father with a different partner. Conclusion: Patients with type 1 geleophysical dysplasia constitute interes cases in the cause of rare diagnosis in pediatric age and clinical suspicion, It can be generated from the describe cardinal clinical findings, corroborated with the molecular study and complemented with the preparation and interpretation of family genealogy. [ABSTRACT FROM AUTHOR] |
| Abstract (Spanish): | Introducción: La displasia geleofísica es un trastorno heterogéneo del tejido conectivo, caracterizado por presentar baja talla, manos y pies pequeños, y limitación para los movimientos articulares, con heterogeneidad de locus y herencia autosómica recesiva. Objetivo: Describir los hallazgos clínicos y radiológicos de dos pacientes con displasia geleofísica tipo 1. Casos clínicos: Recién nacido a término, con antecedente de polihidramnios, pequeño para la edad gestacional. A las 20 horas de vida presentaba limitación para los movimientos articulares, con dedos de las manos y los pies cortos, de piel gruesa y áspera. Con cuatro meses de edad, los exámenes de laboratorio reportaron: disminución de la hormona de crecimiento 0,90 ng/ml (1-9 ng/ml) y el factor de crecimiento insulinoide tipo 1 < 40 ng/ml (49-327 ng/ml) con persistencia de baja talla, por debajo del percentil 3. El estudio molecular reportó una variante que se encuentra en heterocigosis compuesta c.[215G>A] + [340G>A] en el gen ADAMTSL2 , para displasia geleofísica tipo 1. El segundo caso se trata de un recién nacido de 72 horas de vida, medio hermano del primer caso, quien presentó hallazgos clínicos coincidentes con el primero, además de válvula bicúspide aórtica; ambos casos del mismo padre con diferente pareja. Conclusión: Los pacientes con displasia geleofísica tipo 1 constituyen casos de interés por tratarse de un diagnóstico poco frecuente en la edad pediátrica y la sospecha clínica puede generarse a partir de los hallazgos clínicos cardinales descritos, corroborados con el estudio molecular y complementado con la confección e interpretación de la genealogía familiar. [ABSTRACT FROM AUTHOR] |
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| Database: | MedicLatina |
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| Abstract: | Introduction: Geleophysic dysplasia is a heterogeneous disorder of connective tissue, characterized by short stature, small hands and feet, limited joint movements. With locus heterogeneity and autosomal recessive inheritance. Objective: To describe the clinical and radiological findings of two patients with type 1 geleophysic dysplasia, discussion of differential diagnoses, natural history and molecular findings. Clinical cases: Term newborn, with a history of polyhydramnios, small for gestational age, was assess at 20 hours of life, who presented limitated of joint movements, with short fingers and toes, thick and rough skin. At four months of age, laboratory tests reported: decreased growth hormone 0.90 ng / ml (1-9 ng / ml) and insulin-like growth factor type 1 <40 ng / ml (49-327 ng / ml) with persistence of short stature, below the 3rd percentile. The molecular study reported a variant that was compound heterozygous c.[215G>A] + [340G>A] in the gene ADAMTSL2, for type 1 geleophysic dysplasia. The second case is a 72-hour-old newborn, half-brother of the first case, who presented clinical findings that consistent with the first, except that he also presented a bicuspid aortic valve; both cases of the same father with a different partner. Conclusion: Patients with type 1 geleophysical dysplasia constitute interes cases in the cause of rare diagnosis in pediatric age and clinical suspicion, It can be generated from the describe cardinal clinical findings, corroborated with the molecular study and complemented with the preparation and interpretation of family genealogy. [ABSTRACT FROM AUTHOR] |
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| ISSN: | 00419095 |
| DOI: | 10.11144/Javeriana.umed63-4.adam |
