Disease: Diaphragmatic hernia upper limb defects
- A case of agnathia, tetramelia and diaphragmatic hernia at 18 weeks' gestation
- A clinical syndrome associated with 5p duplication and 9p deletion
- A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"
- A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities' agenesis: case report
- Association of congenital diaphragmatic hernia with limb-reduction defects
- Bilateral congenital diaphragmatic hernia: Differentiation between Pallister-Killian and Fryns syndromes
- Bilateral diaphragmatic hernia. Apropos of 2 cases
- Bochdalek congenital diaphragmatic hernia, severe homolateral limb deficiency with intra-thoracic/abdominal limb remnants
- Brachmann-de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis
- Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics
- Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel <em>NIPBL</em> Pathogenic Variant
- Congenital diaphragmatic hernia and ipsilateral limb reduction defect: a new case, long-term follow-up and review of the literature
- Congenital diaphragmatic hernia associated with homolateral upper limb malformation: a study of possible pathogenesis in four cases
- Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: report of a case with thumb hypoplasia
- Congenital microgastria occurring in combination with skeletal malformations new syndrome
- Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia
- Diaphragmatic hernia with homolateral limb reduction
- Disinfection By-Product Exposures and the Risk of Musculoskeletal Birth Defects
- Epidemiological analysis of the association of congenital diaphragmatic hernia with upper-limb deficiencies: a primary polytopic developmental field defect
- Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
- Fryns syndrome
- Fryns syndrome phenotype and trisomy 22
- Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia
- Fryns syndrome: another example of non-lethal outcome with severe mental handicap
- Fryns syndrome: neurologic findings in a survivor
- Fryns syndrome: two further cases without lateral diaphragmatic defects
- Jarcho-Levin syndrome presenting with diaphragmatic hernia
- Laparoscopic cholecystectomy in an adult with agenesis of right hemidiaphragm and limb reduction defects: First report in literature
- Letter: Anticonvulsants and congenital abnormalities
- Letter: Congenital diaphragmatic hernia, hypoplastic left lung, and polydactylism
- Microphthalmia with linear skin defects: a case report and review
- Multiple critical smallest region of overlap in monosomy 16Q syndrome?
- Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome
- Neural tube defects in Jarcho-Levin syndrome: study of twenty-eight cases
- Pathologic quiz case: hypoplastic digit, diaphragmatic hernia, and agenesis of the corpus callosum in a 21(5/7)-week fetus. Fryns syndrome
- Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature
- Phocomelia and additional anomalies in two sisters
- Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
- Prenatal diagnosis and long survival of Fryns' syndrome
- Prenatal diagnosis of a case of Fryns' syndrome
- Prenatal diagnosis of a lethal multiple pterygium syndrome type II. Case report
- Routine second-trimester ultrasonography in the United States: a cost-benefit analysis
- Single incision laparoscopic repair for late-onset congenital diaphragmatic hernia using oval-shaped multichannel port device (E•Z ACCESS oval type)-2 months infantile case of Bochdalek hernia
- Single incision laparoscopic repair for late-onset congenital diaphragmatic hernia using oval-shaped multichannel port device (EZ ACCESS oval type)-2 months infantile case of Bochdalek hernia
- Splenogonadal fusion with limb deficiency and micrognathia
- The utility of muscle sparing axillar skin crease incision for pediatric thoracic surgery
- The Vanishing Twin Syndrome: Two Cases of Extreme Malformations Associated With Vanished Twins
- Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst