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1.
BMC Pediatr ; 24(1): 327, 2024 May 11.
Artículo en Inglés | MEDLINE | ID: mdl-38773407

RESUMEN

INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. Its incidence rate is exceedingly low, with only 1 case reported per 4 million live births. The syndrome is distinguished by a series of characteristic clinical features. CASE PRESENTATION: We present a case of a twenty-month-old male with DS who experienced a range of dysmorphic and clinical features with the involvement of multiple systems. These features include skin hyperpigmentation, hypertrichosis, distinct facial features, abdominal distension, and microcephaly, with the involvement of the endocrine, renal, respiratory, and cardiac systems. CONCLUSION: The primary features of DS involve severe insulin resistance and growth abnormalities, the association with pulmonary hypertension (PHTN) has not been reported before. This finding adds more complexity to the condition. To the best of the author's knowledge, this is the first report for a patient with DS who has PHTN. Further investigation is required since the mechanisms behind the development of PHTN in DS are not entirely understood. Shedding light on this association will contribute to better management strategies and outcomes for affected patients.


Asunto(s)
Síndrome de Donohue , Hipertensión Pulmonar , Humanos , Masculino , Hipertensión Pulmonar/etiología , Hipertensión Pulmonar/diagnóstico , Lactante , Síndrome de Donohue/complicaciones , Síndrome de Donohue/diagnóstico
2.
Clin Case Rep ; 10(12): e6802, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36590664

RESUMEN

Uterine rupture mostly occurs in the third trimester. However, it may occur at an earlier time with the same catastrophic consequences. The authors present a case report of uterine rupture occurring in the second trimester at 18 weeks gestation.

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