An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussio...

A 13-month-old girl presented with right upper lobe pneumonia and hypocalcaemic seizures: investigations showed hypoparathyroidism and impaired cell-mediated immune responses. Other features of the DiGeorge syndrome included hypertelorism, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery. Successful restoration of the immunodeficiency was ach...

A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.

A 16 year-old girl with pentasomy X mosaicism (47,XXX(1) 48,XXXX(12)/49,XXXXX) presented with primary amenorrhea. She had epicanthal folds, long philtrum, high-arched palate, facial asymmetry, short webbed neck, low posterior hairline, mild scoliosis, cubitus valgus, mental retardation and clinodactily. She was diagnosed with osteoporosis and premature ovarian failure.

BACKGROUND Human skin properties have been used as an important diagnostic component in traditional medicine as they change with health conditions. Sasang constitutional medicine (SCM) puts emphasis on the recognition of the constitution-specific skin features prior to the diagnostic decision of health. In this work, in search of skin-characteristics effectively reflecting SCM features, we comp...

STATEMENT OF PROBLEM The importance of the midline is well known to dentists. Currently, there are no verifiable guidelines that direct the choice of specific anatomic landmarks to determine the midline of the face or midline of the mouth. PURPOSE The purpose of this study was to determine the hierarchy of facial anatomic landmarks closest to the midline of the face as well as midline of the ...