Sirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.

Imperforate tricuspid valve with severe hypoplasia associated with an atypical vascular ring in the set of left isomerism. First case report.

Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failure.

VACTERL Association and Unilateral Lambdoid Craniosynostosis.

Abdominal compartment syndrome in the pediatric population - Case series and review of the literature.

MRI-based Stratification and Surgical Management of Hydrocolpos in Children and Adolescents.

Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.

Clinical characteristics of patients with SALL1-related disorder.

Mayer-Rokitansky-Kuster-Hauser syndrome.

Aphallia in a patient with 9q34 duplication syndrome: a case report.

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome.

Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model.

1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case.

Sirenomelia-Challenges and Treatment Approach in a Rare Case.

Johanson-Blizzard syndrome with cystic dilation of the cochlea and hypoplastic modiolus: a case report.

Frequency, clinical presentation and management of primary amenorrhea in a tertiary care setting.

A Precious Puzzle: Unveiling a Suspected VACTERL (Vertebral, Anal, Cardiovascular Malformations, Tracheo-esophageal Fistula, Renal Anomalies, and Limb Defects) Association in a 28-Day-Old Neonate.

Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of the Second Case and Phenotypic Assessment.

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene.

Minimally Invasive Placement of Pedicle Screws Using Robotic-Assisted Navigation and Magnetically Controlled Growing Rods in a Patient with Early-Onset Scoliosis: Technical Note and Case Report.

Currarino syndrome with immature teratoma: A case report with review of literature.

Birth defects in a rural province in Papua New Guinea.

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.

Can Anorectal Stenosis be Managed With Dilations Alone? A PCPLC Review.

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.

OIES complex diagnosed by in utero ultrasound a case report.

Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos.

Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review.

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

LUMBAR syndrome-OEIS complex overlap: A case series and review.

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

A Korean male with Kleefstra syndrome presented with micropenis.

Anesthetic management for emergency cesarean section in a patient with Townes-Brocks syndrome.

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.

Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene.

Hydrometrocolpos: a Contemporary Review of the Last 5 Years.

Prenatal sirenomelia diagnosis in the first trimester: A case report and literature review.

Two-balloon epistaxis catheter to ensure vaginal patency in a complex case of vaginoplasty for vaginal agenesis: a case report.

Trichorhinophalangeal syndrome type I associated with imperforate hymen.

A Case of Perineal Hemangioma, External Genitalia Malformations, Lipomyelomeningocele, Vesicorenal Abnormalities, Imperforate Anus, and Skin Tag (PELVIS) Syndrome with Extensive Perineal Infantile Hemangioma.

Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.

Paternal age and risk for selected birth defects in a large South American sample.

Sirenomelia- A rare congenital anomaly: Case report.

A previous clinical diagnosis of Ullrich-Feichtiger syndrome is molecularly defined as Townes-Brocks syndrome.

Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.

Townes-Brocks syndrome with adult renal impairment in a Chinese family: A case report.

Pelvic Ectopic Kidney Prevalence and Pressure Changes During Cloacal Exstrophy (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects Syndrome) Closure.

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.

[Infrequent association of OEIS complex with a diaphragmatic defect].

Clinical features of 102 patients with different types of Herlyn-Werner-Wunderlich syndrome.

A Female Infant with Rectovestibular Fistula and Imperforate Hymen.

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Multiple Hemivertebrae: The Natural History and Treatment of 50 Patients.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Hydrometrocolpos With Polydactyly in Consanguineous Parents: A Case Report and Review of Literature.

Prenatal hydrometrocolpos as an unusual finding in Fraser syndrome. Case report.

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.

Spectrum of fetal limb anomalies.

Challenges in prenatal diagnosis of foetal anorectal malformation and hydrocolpos - Case report.

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

Prenatal Diagnosis of Bladder Exstrophy and OEIS over 20 Years.

[Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene].

Congenital pouch colon: Case report and literature review.

Townes-Brocks syndrome with craniosynostosis in two siblings.

Caudal regression syndrome: Postnatal radiological diagnosis with literature review of 83 cases.

A case of congenital cloacal exstrophy/omphalocele-exstrophy-imperforate anus-spinal defects syndrome and a successful pregnancy.

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.

Clinical and genetic approach in the characterization of newborns with anorectal malformation.

Cat-Eye Syndrome: A Report of Two Cases and Literature Review.

Surgical disorders in pediatric and adolescent gynecology: Vaginal and uterine anomalies.

Fetal and Newborn Management of Cloacal Malformations.

Conservative Treatment of Didelphyc Uterus with Obstructed Hemivagina and Ipsilateral Renal Agenesis.

Mermaid syndrome: A case report in Somalia.

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

[Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia].

Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.

Is horseshoe lung a component of VACTERL spectrum? Case report and review of literature.

Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) - A Fetal Autopsy Case.

Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining.

Hydrometrocolpos in Infants: Etiologies and Clinical Presentations.

Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A.

Risk factors of vesicoureteral reflux and urinary tract infections in children with imperforate anus: A population-based case-control study in Taiwan.

50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes.

Congenital Pouch Colon: Further Histopathological Perspectives.

The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.

OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects.

The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.

Mermaid syndrome associated with VACTERL-H syndrome.

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Newborn with complete double penis and two separate scrotums: A case report.

UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism.

Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly.

A rare report on 18-month survival of a dog born with multiple anomalies including atresia ani.

Mayer-Rokitansky-Küster-Hauser syndrome with rare findings of inferior crossed-fused renal ectopia and Gartner's duct cyst: a video case report.

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.

Congenital uterovaginal abnormalities, it's embryogenesis, surgical management and clinical implications.

Currarino triad: A case report of a 48-year-old patient with a neuroendocrine tumor.

LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome.

Sirenomelia (Mermaid Syndrome): A Case Report.

A Case of Split Notochord Syndrome with Left Congenital Diaphragmatic Hernia: A Rare Association.

Primary amenorrhea in females attending gynaecological outpatient of a tertiary care hospital at Peshawar.

A Review of Mullerian Anomalies and Their Urologic Associations.

Infant of a Diabetic Mother With an Anomaly.

Growth from Birth to 30 months for Infants Born with Congenital Gastrointestinal Anomalies and Disorders.

Genetic counseling for fetal gastrointestinal anomalies.

Ocular features of Townes-Brocks syndrome.

Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.

[Long-term efficacy analysis of laparoscopic-assisted anorectoplasty for high and middle imperforate anus].

Pancreatic Malnutrition in Children.

Surgical management of caudal duplication syndrome: A rare entity with a centered approach on quality of life.

Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes.

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

Imperforate anus associated with anomalous pulmonary venous return in scimitar syndrome. Case report from a tertiary hospital in Ethiopia.

Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report.

Unusual Conditions Impairing Saliva Secretion: Developmental Anomalies of Salivary Glands.

Gastrointestinal disorders in Down syndrome.

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Treatment guidelines for persistent cloaca, cloacal exstrophy, and Mayer-Rokitansky-Küster-Häuser syndrome for the appropriate transitional care of patients.

Pallister-Hall Syndrome Presenting in Adolescence.

A Case of Sirenomelia: A Mermaid Baby.

Newborn Imperforate Hymen Resulting in Hydronephrosis.

Causes Of Primary Amenorrhea At Tertiary Level Hospital.

Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report.

Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity.

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes.

Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome.

A bizarre case of accessory larynx in an infant with OEIS syndrome.

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Spinal Column Shortening for Secondary Tethered Cord Syndrome in Children: 2-Dimensional Operative Video.

[Value of MRI in the pre-operative diagnosis and classification of oblique vaginal septum syndrome].

Johanson-Blizzard syndrome with associated urogenital anomalies.

Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach.

A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome.

Robinow syndrome: a diagnosis at the fingertips.

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.

Mermaid Syndrome: A Case Report in Mauritius.

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome.

Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome.

Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.

Hydrometrocolpos etiology and management: past beckons the present.

[Hematocolpos : an unappreciated diagnosis of hymen imperforation].

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism.

Imperforate Hymen: Varied Presentation, New Associations, and Management.

Early prenatal diagnosis of a lumbo-costo-vertebral syndrome.

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.

Müllerian anomaly in a woman with Hirschsprung's disease.

Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease.

Giant fetal hydrometrocolpos associated with cloacal anomaly causing postnatal respiratory distress.

Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus.

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.

Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome.

A novel variant in MED12 gene: Further delineation of phenotype.

On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome.

Bound Waters Mediate Binding of Diverse Substrates to a Ubiquitin Ligase.

MRI in the evaluation of obstructive reproductive tract anomalies in paediatric patients.

Prenatal diagnosis and outcome of fetal gastrointestinal obstruction.

Recurrent Urinary Tract Infections in a Female Child With Polydactyly and a Pelvic Mass: Consider the McKusick-Kaufman Syndrome.

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Imperforated cor triatriatum dexter in a dog with concurrent caudal vena cava wall mineralization.

Currarino Syndrome in a Fetus, Infant, Child, and Adolescent: Spectrum of Clinical Presentations and Imaging Findings.

Johanson-Blizzard syndrome presenting as chronic diarrhoea.

Physiological functions and clinical implications of the N-end rule pathway.

Tracheal agenesis: A report of two cases.

Deletion upstream of SALL1 producing Townes-Brocks syndrome.

Is 1p36 deletion associated with anterior body wall defects?

Growth morbidity in patients with cloacal exstrophy: a 42-year experience.

Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.

Oblique facial clefts in Johanson-Blizzard syndrome.

Hydrometrocolpos Presenting as a Huge Abdominal Swelling and Obstructive Uropathy in a 4 Day Old Newborn: A Diagnostic Challenge.

Unique Presentation of Hematometrocolpos Mimicking Cauda Equina Syndrome: Severe Back Pain and Urinary Incontinence in an Adolescent Girl.

Dental Treatment Considerations for Children with Complex Medical Histories: A Case of Townes-Brock Syndrome.

Herlyn-Werner-Wunderlich Syndrome: A Rare Cause of Pelvic Pain and High CA 19-9 Levels in an Adolescent Girl.

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

TWO DIFFERENT MUTATIONS OF GL13 GENE IN TWO DIFFERENT SYNDROMES.

A newborn with trisomy 13 presenting with cloacal exstrophy.

Spectrum of urorectal septum malformation sequence.

Serial Hunt for Ciliary Genes in Complex Syndromes.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Cloacal reconstruction after a complex treatment of perineal haemangioma in a variant of PELVIS syndrome.

Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype.

A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.

[Voiding syndrome of gynaecological origin: the importance of good physical examination].

Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.