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The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung +3 more
wiley +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source

A Case of Pneumococcal Necrotizing Pneumonia in an Adult. [PDF]

Respirol Case Rep
Kajie S, Nakamura K, Moriya T.
europepmc +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source

Optical Coherence Tomography for Assessing the Severity of Dental Caries: An In Vitro Validation Study. [PDF]

Dent J (Basel)
Hwang IK, Kim SY, Kim TI.
europepmc +1 more source

Feasibility Study of Radiographic Rail Inspections Using a Compact X-ray Tube [PDF]