Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)
DOI:
https://doi.org/10.15381/anales.v85i1.26805Keywords:
Acanthosis nigricans, Achondroplasia, Fibroblast Growth Factor, Type 3, Infant, PrematureAbstract
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.
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Anales de la Facultad de Medicina
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Those authors who have publications with this magazine accept the following terms:
- Authors will retain their copyrights and guarantee the journal the right of first publication of their work, which will be simultaneously subject to Creative Commons Attribution License that allows third parties to share the work as long as its author and its first publication this magazine are indicated.
- Authors may adopt other non-exclusive licensing agreements for the distribution of the version of the published work (eg, deposit it in an institutional electronic file or publish it in a monographic volume) provided that the initial publication in this magazine is indicated.
- Authors are allowed and recommended to disseminate their work over the Internet (eg: in institutional telematic archives or on their website) before and during the submission process, which It can produce interesting exchanges and increase quotes from the published work. (See El efecto del acceso abierto ).
