ABSTRACT
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.
Subject(s)
Agenesis of Corpus Callosum/genetics , Craniofacial Abnormalities/genetics , Ephrin-B1/genetics , Hernias, Diaphragmatic, Congenital/genetics , Agenesis of Corpus Callosum/diagnostic imaging , Agenesis of Corpus Callosum/pathology , Child , Child, Preschool , Craniofacial Abnormalities/diagnostic imaging , Craniofacial Abnormalities/pathology , Exons/genetics , Female , Hernias, Diaphragmatic, Congenital/diagnostic imaging , Hernias, Diaphragmatic, Congenital/pathology , Heterozygote , Humans , Infant , Male , Mutation/genetics , Skull/diagnostic imaging , Skull/pathologyABSTRACT
The aim of our study was to determine the frequency and type of associated congenital anomalies in patients with isolated gastroschisis born at the Dr. Juan I. Menchaca Civil Hospital of Guadalajara (Guadalajara, México), and to explore its possible association with the included outcome variables. One hundred-eight cases with isolated gastroschisis were reviewed from 2009 to 2014. The occurrence of intestinal and extraintestinal associated anomalies (either secondary or primary) was prospectively assessed. The type of gastroschisis, length of hospital stay (LOS), and in-hospital mortality were outcome variables for statistical analysis. Of infants with gastroschisis, 52 (48.1%) had one or more associated anomalies (AA), with increased odds in males (OR = 2.3, 95%CI: 1.1-5.0). AA classified, as secondary and primary were present in 34.3 and 5.6% of patients, respectively. Of secondary AA, 25.9% were intestinal anomalies, and 17.6% were extraintestinal. Primary AA were congenital heart disease (n = 3), meningomyelocele, and hydrocephaly and amniotic band sequence in one instance, respectively. Multivariate logistic regression showed that secondary AA (both intestinal and extraintestinal) were associated with complex gastroschisis, prolonged LOS, and in-hospital death, whereas primary AA were not related to a worse outcome. Our results highlight the pathogenic importance of properly investigating and categorizing the presence of others secondary or primary AA when diagnosis of gastroschisis is made.
Subject(s)
Congenital Abnormalities/etiology , Gastroschisis/complications , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Female , Gastroschisis/pathology , Gastroschisis/surgery , Humans , Incidence , Infant , Length of Stay , Male , Mexico/epidemiology , Prospective Studies , Risk FactorsSubject(s)
Humans , Adolescent , Infant, Newborn , Infant , Child, Preschool , Child , Musculoskeletal Abnormalities , Urogenital Abnormalities , Seizures , Respiratory Tract Diseases , Gastrointestinal Diseases , Radiography, Abdominal , Radiology , Nuclear Medicine , Radiation Oncology , Radiology Department, Hospital , Radiology Information Systems , UltrasonographyABSTRACT
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.
Subject(s)
Abnormalities, Multiple/diagnosis , Eye Abnormalities/diagnosis , Abnormalities, Multiple/genetics , Cleidocranial Dysplasia/diagnosis , Ectodermal Dysplasia/diagnosis , Fatal Outcome , Female , Genes, Recessive , Humans , Infant , Karyotyping , Limb Deformities, Congenital/diagnosis , Micrognathism/diagnosis , SiblingsSubject(s)
Agenesis of Corpus Callosum , Cerebral Aqueduct/abnormalities , Craniosynostoses/diagnosis , Developmental Disabilities/diagnosis , Fingers/abnormalities , Hydrocephalus/diagnosis , Thorax/abnormalities , Craniosynostoses/diagnostic imaging , Craniosynostoses/genetics , Developmental Disabilities/genetics , Humans , Hydrocephalus/diagnostic imaging , Hydrocephalus/genetics , Infant , Magnetic Resonance Imaging , Male , Radiography , SyndromeABSTRACT
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.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Deglutition Disorders/mortality , Morbidity , Oropharynx/physiopathology , Osteochondrodysplasias/diagnostic imaging , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Child, Preschool , Consanguinity , Deglutition Disorders/congenital , Face/abnormalities , Fatal Outcome , Female , Genes, Recessive , Humans , Hypothyroidism/physiopathology , Infant , Infant, Newborn , Osteochondrodysplasias/genetics , Osteochondrodysplasias/pathology , Primary Dysautonomias/congenital , Radiography , Respiratory Insufficiency/genetics , Siblings , Syndrome , Thyroid Gland/abnormalitiesABSTRACT
Oculoauriculofrontonasal syndrome was the subset of patients with oculo-auriculo-vertebral spectrum and frontonasal malformation. Radiographic evidence of tracheal duplication was documented in a male infant with oculoauriculofrontonasal syndrome. Although previously unreported in oculoauriculofrontonasal syndrome, airway anomalies in our case can be attributed to the oculo-auriculo-vertebral component of the oculoauriculofrontonasal syndrome.
Subject(s)
Abnormalities, Multiple/pathology , Eye Abnormalities/pathology , Female , Humans , Infant, Newborn , Male , Nose/abnormalities , Nose/pathology , Respiratory System Abnormalities/pathology , Spine/abnormalities , Spine/pathology , SyndromeABSTRACT
Fue encontrada en cuatro pacientes, una imagen característica por ultrasonido que sugiere invaginación intestinal. Esta imagen se describe como "el signo de seudorriñón", pues es similar a la apariencia sonográfica del riñón normal. Aun cuando ocasionalmente puede ser encontrada en personas normales, debe considerarse una lesión intestinal. El diagnóstico fue confirmado por estudio de colon por enema o por intervención quirúrgica en nuestros pacientes
Subject(s)
Child, Preschool , Child , Humans , Male , Female , Intestinal Diseases/diagnosis , Intussusception/diagnosis , UltrasonographyABSTRACT
El ultrasonido ha adquirido notable importancia como recurso técnico diagnóstico en las enfermedades gastrointestinales. En nuestro caso, una lesión típica polipoide fue observada en la pared lateral del recto por medio de ultrasonido. Informamos la apariencia sonográfica del pólipo rectal en el niño y la importancia de continuar estudiándolo por este método
Subject(s)
Child , Humans , Female , Intestinal Polyps/diagnosis , Ultrasonography/methodsABSTRACT
Este artículo describe el tamaño normal de la vesícula biliar y de las venas esplénica, suprahepáticas, porta y cava inferior en niños. Se discute que el incremento en el tamaño de estas estructuras puede indicar situaciones anormales. En consecuencia, un diagnóstico preciso puede ser realizado por medio del ultrasonido
Subject(s)
Portal Vein/anatomy & histology , Ultrasonics , Splenic Vein/anatomy & histology , Hepatic Veins/anatomy & histology , Vena Cava, Inferior/anatomy & histology , Gallbladder/anatomy & histologyABSTRACT
Se presenta un caso clínico de ascaridiasis y su diagnóstico logrado con ultrasonografía. Se discuten las ventajas de este método frente a los métodos invasivos, cuando los áscaris ocupan la vesícula biliar
