OBJECTIVES The purpose of this study was to demonstrate that a quantitative, multivariate case definition of the fetal alcohol syndrome (FAS) facial phenotype could be derived from photographs of individuals with FAS and to demonstrate how this case definition and photographic approach could be used to develop efficient, accurate, and precise screening tools, diagnostic aids, and possibly surve...

A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosom...

The visibility of anterior tooth surfaces with lips at rest or during function is an important factor in determining prosthodontic outcome. There is a lack of sufficient information published on this subject. The aim of this study was to investigate the degree of visibility of maxillary and mandibular anterior teeth surfaces when the lips are at rest. Four hundred seventy three adults were exam...

Incomplete unilateral cleft lips show a wide range of deformities, ranging from microform to near-complete clefts. Because there are different amounts and qualities of tissue present on the cleft and non-cleft sides, surgical approaches should make distinctions based on the remnant tissue. A new procedure using an upper triangular flap that combines characteristics of both rotation advancement ...

BackgroundThe ALDH18A1 gene is located at 10q24.1 and encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), a mitochondrial bifunctional enzyme that catalyzes the first two steps in de novo biosynthesis of proline, ornithine, citrulline, arginine. ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant recessive hereditary spastic paraplegia (SPG9A SPG9...

background: x-linked lissencephaly with ambiguous genitalia (xlag) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. xlag is responsible for a severe neurological disorder of neonatal onset in boys. a gyration defect con...

Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...

EDITOR—The proband was a male infant born to a 28 year old mother and 24 year old father. The parents were healthy and non-consanguineous. There was no significant family history. The pregnancy was complicated by intrauterine growth retardation. At term, birth weight was 2300 g and bilateral talipes were noted, as were a number of dysmorphic features. These included an enlarged anterior fontane...

Introduction: Anthropometry (morphometry of the human) is measurement of linear and angular dimensions of the human body. Since the anthropometric parameters which are based on age, sex, geographical location and ethnic characteristics of the human species are different, therefore, anthropometric studies of population by age and sex should be done separately. Methods: In this study, anthro...

The patient was delivered after a normal pregnancy to a primigravida mother in February 1981. Her parents were healthy and non-consanguineous. They were 25 years old at her birth. Her birth weight was 2980 g. Physical examination revealed the following abnormalities (fig 1): coarse and abundant hair, narrow forehead with hypertrichosis, flat occiput, hypertelorism, short nose with anteverted no...