A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of ...

In the present study, a total of 150 individuals in different age group presenting clinical profile like genetically uncertain syndrome, multiple congenital anomalies, short stature, facial dysmorphism, abnormal behaviour, unclassified mental retardation and Down syndrome were referred to the Human Genetic Research cum Counselling centre, Jammu to rule out chromosomal abnormality. Chromosome st...

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facia...

The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening o...

The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association with multiple extracutaneous manifestations, mostly of the central nervous and musculoskeletal systems. This leads to characterization of HI as a...

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Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome. ACS syndromes are a group of autosomal dominant syndromes, in which craniosynostosis is associated with acrocephaly and syndactyly. Main features characterizing SCS, also known as ACS III, are premature fusion of the coronal sutures leading to skull deformation, facial dysmorphism, syndactyly, skeletal deformity...

Deletions of the long arm of the Y chromosome have previously been associated with azoospermia and short stature. We report the results of a detailed clinical and molecular study of nine males with partial deletions of Yq. Special emphasis was laid on congenital anomalies and dysmorphic features. Some of the patients have developmental problems or distinct facial features, namely a small chin a...

48 XXYY is a sex chromosome tetrasomy condition which causes tall stature, hypergonadotrophic hypogonadism, facial dysmorphism, developmental delay and behavioural difficulties. Over 100 cases have been published in the literature but there is little information on the ophthalmic findings in these patients. Previously reported ophthalmic findings have included Duane anomaly, high myopia and ret...

Patients with Williams-Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years...