Osteoporosis imperfect caused by P4HB gene variation:report of one case and literature review / 中华全科医师杂志

A 6-month-oldgirl was admitted in Affiliated Children′s Hospital of Capital Institute of Pediatrics with the complaint of “Recurrent fractures within 3 months”. She presented with frequent fractures, skeletal deformities,and distinctive facial features, including wide forehead, ocular proptosis and a flat nose bridge. She was diagnosed as osteoporosis imperfecta based on the clinical characteristics and given pamidronate disodium treatment. The whole exon sequencing showed heterozygous mutation of P4HB gene c.1178A>G (p.Y393C), which leads to a rare type of osteoporosis imperfect a Cole-Carpenter syndrome-1. Eight cases of osteoporosis imperfecta affected by P4HB mutation involving 5 mutationsites were retrieved from literature review. Different mutation sites lead to different clinical manifestations and severity of disease. The genotype-phenotype correlation of osteoporosis imperfect may be associated with the domains of coding proteins.

Self-face perception: Individual differences and discrepancies associated with mental self-face representation, attractiveness and self-esteem

Self-face perception plays an important role in self-consciousness and personal identity as well as in social exchanges and well-being. Despite its significance, little is known about how individuals represent their faces internally. This study explored mechanisms of self-face perception in three experiments. First, participants chose from two images (self-face image vs. self-image with manipulated facial features) which one was their veridical image and which one they liked most. Afterwards, participants could (digitally) manipulate their facial features to increase their attractiveness (either to themselves or to an imagined other/s). Results showed that self-face recognition was better when veridical faces were paired with 'clones' with larger facial features or when all facial features were enlarged concurrently. Moreover, up to half of the participants preferred smaller noses and larger eyes and manipulated their self-images accordingly. State (but not trait) self-esteem was inversely correlated with eye, mouth and nose size manipulations made to increase one's attractiveness. The results indicate that a certain tolerance for error in self-face recognition might be required to maintain a consistent facial identity during one's lifespan. The discovered preference for neotenous features and discrepancies between one's perceived and one's veridical face and their link to state self-esteem are discussed...

Diagnosis and treatment of Noonan syndrome / 中华实用儿科临床杂志

Noonan syndrome(NS) is a congenital genetic disease characterized by distinctive facial features,short stature,chest deformity,congenital heart disease,and other comorbidities.This article reviewed the research history of NS,the clinical manifestations and their relationship with genotype,the diagnosis and treatment.

Cornelia de lange syndrome.

BACKGROUND: Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism. CASE: Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple congenital anomalies. Clinical investigation showed that the child was a case of CDLS. CONCLUSION: This is the first case report with CDLS in Iran.

A Case of Kabuki Make-Up Syndrome

Kabuki make-up syndrome (KMS) was firstly reported in 1981 by Niikawa, et al. and Kuroki et al. in a total of ten unrelated Japanese children with characteristic array of multiple congenital anomalies and mental retardation. The name reflects the resemblance between the facial features of patients and the actors of Kabuki, one of the most famous traditional performing arts in Japan. The syndrome is characterized by mental and developmental retardations and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows. In addition, dermatoglyphic and skeletal abnormalities are commonly associated. In Japan, the syndrome appears to have an incidence of about 1 : 32,000 newborns. Outside of Japan, a growing number of patients have been recognized. However, this syndrome has been reported only a few cases in Korea. We report a boy diagnosed by clinical features with a brief review of the literature.