RESUMO
We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein truncation. From our review, we found at least 39 published CFNS patients with extracranial midline defects, comprising congenital diaphragmatic hernia, congenital heart defects, umbilical hernia, hypospadias, and less frequently, sacrococcygeal teratomas, and internal genital anomalies in females. These findings support that the EFNB1 mutations have systemic consequences disrupting morphogenetic events at the extracranial midline. Though these are not rigorously included as midline defects, we found at least 10 CFNS patients with congenital anomalies of the kidney and urinary tract, all females. Additionally, uterus didelphys and ocular melanocytosis observed in our patient are proposed also as a previously unreported EFNB1-related midline defects. In addition, this case may be useful for considering the intentional search for genitourinary anomalies in future patients with CFNS, which will be helpful to define their frequency in this entity.
Assuntos
Agenesia do Corpo Caloso/genética , Anormalidades Craniofaciais/genética , Efrina-B1/genética , Hérnias Diafragmáticas Congênitas/genética , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/patologia , Criança , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/patologia , Éxons/genética , Feminino , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/patologia , Heterozigoto , Humanos , Lactente , Masculino , Mutação/genética , Crânio/diagnóstico por imagem , Crânio/patologiaAssuntos
Agenesia do Corpo Caloso , Aqueduto do Mesencéfalo/anormalidades , Craniossinostoses/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Dedos/anormalidades , Hidrocefalia/diagnóstico , Tórax/anormalidades , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/genética , Deficiências do Desenvolvimento/genética , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/genética , Lactente , Imageamento por Ressonância Magnética , Masculino , Radiografia , SíndromeRESUMO
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. We suggest that an extensive ophthalmologic examination should be carried out in all children with YVS in order to define the frequency and nature of the ocular findings in these patients.
Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades do Olho/diagnóstico , Anormalidades Múltiplas/genética , Displasia Cleidocraniana/diagnóstico , Displasia Ectodérmica/diagnóstico , Evolução Fatal , Feminino , Genes Recessivos , Humanos , Lactente , Cariotipagem , Deformidades Congênitas dos Membros/diagnóstico , Micrognatismo/diagnóstico , IrmãosRESUMO
Stüve-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. Molecular study in the leukemia inhibitory factor receptor (LIFR) gene (OMIM *151 443) demonstrated the presence of a mutation. We observed that in one of our patients, oropharyngeal disruption in the swallowing process caused repetitive aspiration pneumonias, life-threatening events, and finally death. We emphasize that these features represent dysautonomic manifestations of SWS, and are probably related to pharyngoesophageal dyskinesia due to abnormal autonomic control of the anterior rami of cervical roots C1-C5.