Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.

Diagnosis of hypochondroplasia: international Delphi consensus recommendations.

The first report of hypohidrotic ectodermal dysplasia caused by a novel mutation and accompanied with pathological femoral neck fracture

This case expands the mutational and phenotypic spectrum of TP63-associated HED by describing a previously unreported mutation presenting with a pathological femoral neck fracture and end-stage renal disease.

Beyond Surgical Repair in Hypospadias: Genetics, Emerging Technologies, and Lifelong Outcomes—A Narrative Review

Background/Objectives: Hypospadias is a heterogeneous congenital anomaly. This selected narrative review examines emerging domains that may complement conventional surgical care, with particular emphasis on complex, proximal, atypical, familial, or disorder of sex development (DSD)-associated presentations and on long-...

Expanding the Clinical and Genetic Spectrum of Schmid Metaphyseal Chondrodysplasia: A Seven-Patient Series Including a Rare Homozygous COL10A1 Case.

Schmid metaphyseal chondrodysplasia (SMCD, OMIM #156500) is a skeletal dysplasia characterized by progressive short stature, shortening of the tubular bones, and genu varum. In this study, we present the clinical and genetic findings of patients with COL10A1 variants. A total of seven patients from two unrelated famili...

Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.

It is demonstrated that YVS has a highly characteristic and recognizable phenotype, with digital abnormalities representing the most diagnostically valuable finding warranting FIG4 sequencing.

Recognizing Stuve-Wiedemann syndrome in childhood: clinical insights from 11 patients with founder and novel LIFR variants.

The high rate of consanguinity in Türkiye, together with the recurrent p.(Arg692Ter) variant in LIFR identified in multiple unrelated families, supports the possibility of a founder effect and suggests that the frequency of Stuve–Wiedemann syndrome in the population may be higher than expected.