• A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome
• Anesthetic considerations in an infant with femoral hypoplasia-unusual facies syndrome and Pierre Robin sequence: A case report
• Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
• Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
• Central precocious puberty with hypothalamic hamartoma; the first case reports of two siblings with different phenotypes in Seckel syndrome 5
• Early Vascular Ageing in adolescents with migraine with aura: a community-based study
• Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement
• Femoral Hypoplasia with Unusual Facies Syndrome
• Femoral hypoplasia-unusual facies syndrome with renal agenesis and patent ductus arteriosus
• Femoral hypoplasia-unusual facies syndrome: A case report
• Femoral-facial syndrome
• Femoral-facial syndrome in an infant of a diabetic mother
• Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair
• Femoral-facial syndrome: Report of 2 fetal cases
• First Reported Case of Femoral Facial Syndrome in an Adult: Esophageal Adenocarcinoma as a Progressive Gastrointestinal Manifestation
• Holoprosencephaly in Patau Syndrome
• Hyperparathyroidism Jaw-Tumor Syndrome: A Case Report From a Radiological View
• Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report
• Multiple Bone Fractures in a Patient With Difficult-to-Treat Cushing's Disease
• Pre-Epiglottic Baton Plate in the Management of Upper Airway Obstruction in an Infant with Femoral Facial Syndrome: A Case Report
• Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review
• Pressure ulcers after prone positioning in patients undergoing extracorporeal membrane oxygenation: A cross-sectional study
• Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration
• Surgical Management of Hip Dislocation in a Patient with SCARF Syndrome: A Case Report with a 6-Year Follow-up
• The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient
• The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma
• Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing