Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?

Nail-Patella Syndrome Associated with Short Stature: A Case Series

Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clin...

Cleidocranial dysplasia: a rare cause of disproportionate severe short stature.

Skeletal dysplasia is an uncommon cause of short stature in children. An 11-year-old girl was evaluated for severe short stature in a tertiary care hospital. Clinical examination revealed severe disproportionate short stature and classical triad of multiple supernumerary teeth, and complete absence of clavicles and open sagittal sutures and fontanelles. Skeletal survey confirmed these findings,...

The disability of short stature.

Few paediatricians would deny that children with extreme short stature face a disability that may affect their physical, psychological, and social well being. Though considerable research has been performed on the nature of this disability, it has been focused on patients who are very short, secondary to conditions such as growth hormone deficiency or achondroplasia, and are attending specialis...

Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.

Microtia and short stature: a new syndrome.

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the ep...