Acondroplasia severa con retraso del desarrollo y acantosis nigricans (SADDAN)

Translated title of the contribution: Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)

Yesenia Ledesma-Porras, Carlos Torres-Salinas, Arturo Montero-Girón, Vanesa Bustinza-Camarena, Yera Riveros-Feril, Daniel Córdova-Paucarchuco

Research output: Contribution to journalOriginal Articlepeer-review

Abstract

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a rare and lethal skeletal dysplasia. We present the first case detected in Peru, in a 13-month-old infant with phenotypic characteristics of relative macrocephaly, narrow thorax, micromelic extremities and accordion skin; likewise, a marked delay in psychomotor development in all milestones (Peruvian test), and acanthosis nigricans. The patient had a poor clinical evolution characterized by recurrent seizures, progressive respiratory difficulty, dying from respiratory failure concomitant to pneumonia. This entity requires access to specific exams such as the skeletal dysplasia panel, which is not part of the offering in most hospitals in Peru. Greater attention is required for rare diseases, to provide timely diagnoses and information to those involved.

Translated title of the contributionSevere achondroplasia with developmental delay and acanthosis nigricans (SADDAN)
Original languageSpanish
Pages (from-to)74-79
Number of pages6
JournalAnales de la Facultad de Medicina
Volume85
Issue number1
DOIs
StateIndexed - 25 Mar 2024

Bibliographical note

Publisher Copyright:
© 2024 Universidad Nacional Mayor de San Marcos, Facultad de Medicina. All rights reserved.

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