A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just los...

THE whistling deformity is still seen following bilateral cleft lip repairs and is basically due to lack of tissue in the prolabium which is too small to supply adequately both columella and philtrum. Furthermore the prolabium contains no muscle, its vermilion is less than normal and no sulcus separates it from the premaxilla so that the whole lip is tethered at its centre. The columella is usu...

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome with a diagnosis that is dependent upon clinical findings. Recognition of this entity is based upon unique facial appearance, including long palpebral fissures with everted lower eyelids, arched eyebrows, fleshy-cup-shaped ears and trapezoid philtrum, postnatal growth retardation, and mild to moderate mental retardatio...

anthropometry, a useful method for evaluating craniofacial soft tissues, makes the quantitative description of the face possible. it also assesses the degree of disharmony and imbalance in the growth and development of the face. the aim of this study was to examine the overall common age-related changes of nasomaxillary complex of adolescent boys in northeast iran. three- hundred- twelve 12 to ...

Fetal Alcohol Spectrum Disorder (FASD) affects an estimated 1% of all children born in North America. FASD is a chronic disorder impacting many systems of care. Only a minority of these children exhibit the pathognomonic facial features of Fetal alcohol syndrome (FAS) that include short palpebral fissures, smooth philtrum and thin upper lip. Hence, in the majority of affected individuals FASD i...

Cleft of the lip, alveolus and palate (CLAP), is a complex facial deformity, which requires multiple surgeries and bone grafting to correct the defect. Active or passive Pre surgical Orthopedic Molding reduces the deformity and thus reduces number of surgeries to achieve superior post surgical esthetic. Pre-surgical nasoalveolar molding (PNAM) is passive molding which align and approximate the ...

Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth ...

Results The proband, a female neonate, is the first child of healthy nonconsanguineous Chinese parents. She was born by uterine-incision delivery with intrauterine distress after 41 weeks of gestation. Her birth weight was 2.4 kg. She showed an distinctive facies including broad brow, periorbital fullness, epicanthal folds, short nose, long philtrum, small jaw and prominent earlobes. The cardio...

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary w...

We report the first two Malaysian children with partial deletion 9p syndrome, a well delineated but rare clinical entity. Both patients had trigonocephaly, arching eyebrows, anteverted nares, long philtrum, abnormal ear lobules, congenital heart lesions and digital anomalies. In addition, the first patient had underdeveloped female genitalia and anterior anus. The second patient had hypocalcaem...