Publications by authors named "Carmen O Romo-Huerta"
Article Synopsis
- A female patient with craniofrontonasal syndrome (CFNS) exhibited several midline defects, including agenesis of the corpus callosum, ocular issues, and reproductive system anomalies, linked to a novel mutation in the EFNB1 gene.
- Analysis of existing literature revealed at least 39 CFNS cases with similar extracranial midline defects, suggesting that EFNB1 mutations disrupt development in these areas.
- This case emphasizes the need for genetic screenings for urinary and reproductive anomalies in CFNS patients, as it could help identify their prevalence and improve patient management.
The Yunis-Varón syndrome (YVS) represents a rare autosomal recessive syndrome of easy recognition characterized by cleidocraneal dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, and poor outcome. Here, we report two sisters with YVS who also had papillo-macular atrophic chorioretinopathy with "salt-and-pepper" appearance that could not be attributed to environmental or metabolic causes. Our best hypothesis is that the ocular findings in our two patients are part of the phenotypic manifestations of YVS.
View Article and Find Full Text PDFStüve-Wiedemann syndrome (SWS) is an autosomal recessive bone dysplasia (OMIM #601559) characterized by bowing of long bones, camptodactyly, respiratory insufficiency, hyperthermic episodes, and neonatal death from hyperthermia or apnea. We describe two female siblings with SWS born from consanguineous Gypsy parents. For a further delineation of SWS, we report hypothyroidism and ectopic thyroid as part of its phenotypic spectrum.
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