Clitoral Length and Anogenital Ratio in Indian Newborn Girls.

Objective: To generate normative data on clitoris length, anogenital distance and anogenital ratio in Indian newborns. Design: Cross-sectional study. Setting: Neonatal unit of a tertiary care teaching hospital in Kolkata. Participants: 378 female neonates, who were hemo-dynamically stable without critical illness or chromosomal anomaly, and without any vulval hematoma or genital abnormalities. Interventions: Measurements were recorded using a digital vernier caliper between 24-72 hours. Infant was held in position by an assistant, while the investigator measured clitoral length by gently retracting the labia majora. Anogenital distance (centre of the anus to posterior convergence of the fourchette) and anogenital ratio (anogenital distance divided by the distance from centre of the anus to base of the clitoris) was also measured. Main outcome measures: Gestational age- and birthweight-wise normative values of clitoral length, anogenital distance and anogenital ratios. Results: Mean clitoral length was 3.1 (1.54) mm for the whole cohort while anogenital distance and anogenital ratio were 10.2 (2.78) mm and 0.34 (0.07) mm, respectively. The gestation age-wise percentile charts of clitoral length, anogenital distance and anogenital ratio have been generated. There was no correlation between clitoral length and gestational age, body length, head circumference and birth weight. Correlations were also weak for anogenital distance. Conclusions: The normative values generated can serve as reference standard in the assessment of clitoromegaly, ambiguous genitalia, virilizing effects and suspected in utero androgen exposure.

Evaluación diagnóstica del paciente dismórfico / Diagnostic evaluation of the dysmorphic patient

Dismorfología se refiere al estudio de los pacientes con malformaciones congénitas. En este concepto se incluyen también pacientes con otras alteraciones morfológicas que lo hacen aparecer diferente. En este artículo revisamos los diferentes tipos de alteraciones que el médico debe reconocer, tanto cualitativas, como malformaciones, deformaciones, disrupciones y displasias, como cuantitativas enfatizando la importancia de diferenciar si éstas constituyen variación normal, racial o familiar, o son indicadores de una afección genética. Delinearemos la forma de estudiar al paciente y los problemas más frecuentes que dificultan establecer el diagnóstico. Si la malformación es aislada, de causa poligénica/multifactorial, es habitualmente el médico tratante quien establece el diagnóstico y otorga asesoramiento genético. En caso de anomalías múltiples, en que hay que determinar su etiología específica, lo recomendable es referir el paciente a un genetista clínico. Sólo así se podrá dar asesoramiento genético responsable ayudando al paciente a lograr su máximo potencial genético y a la familia a tener hijos normales.

Dysmorphology refers to the study of patients with congenital malformations. However, dysmorphology not only includes the study of birth defects but also the study of patients with other anomalies making him/her look different. In this article we review qualitative abnormalities, such us malformations, deformations, disruptions and displasias as well as quantitative variations which may represent normal, racial or familial, variation or be part of a genetic disorder. We review the study of the patient and frequent diagnostic problems. If the congenital anomaly is isolated, non-syndromic, of polygenic/multifactorial etiology, it is the responsibility of the primary physician to establish the diagnosis and provide genetic counseling. However, in cases of multiple anomalies when the physician should establish the specific etiology, the recommendation is to refer the patient to a clinical geneticist. The main goal of the evaluation is to determine the etiology of the abnormalities. Only then can the physician provide responsible genetic counseling, helping the patient to achieve his/her maximum genetic potential and allow the family to have normal children.

Aberrant Maxillary First Molar Mimicking Mandibular First Molar – An Unusual Case Report.

The tooth development involves a complex series of genetic interactions involving growth factors, transcription factors, signal receptors and diffusible morphogens that interact within independent signalling pathways. This report describes a case of occlusal dysmorphology and a root variance of maxillary right first molar which almost mimicked that of a rotated mandibular 1st molar. The cuspal variation of mesiodistal was same as that of 36. This kind of variation may be due to Genetic or Environmental factors or interplay of both. So there is a need for research to be done in this aspect in larger group.

Unilateral simian crease in a 3 years old child - A case report.

Unilateral simian crease (USC) is a single transverse crease that extends from across the palm of one of the hands. The presence of a single transverse palmar crease or the simian crease (SC) can be seen in normal individuals. The significance of USC lies in the fact that it can also be associated with abnormal medical conditions. Literature review indicates that there is strong coincidence with the presence of a SC and presence of genetic or chromosomal abnormalities in these subset of patients. USC is seen in 10% of the population. In this case report, a three year old child was detected to have a SC, especially an USC in one of his palms.

Presentación de un paciente con síndrome Kabuki / Presentation of a Patient with Kabuki Syndrome

El síndrome Kabuki es una enfermedad genética poco frecuente, caracterizada por discapacidad intelectual, facie peculiar y múltiples anomalías congénitas. Fue descrita en Japón en 1981 por Niikawa y Kuroki; en un inicio se concibe como exclusiva de ese país, donde se estima que su frecuencia es de 1/32000. En la actualidad se han descrito casos procedentes de otras latitudes. Existe un amplio espectro de problemas congénitos asociados al síndrome de Kabuki, con grandes diferencias entre unos y otros individuos. Algunos de los problemas más comunes son defectos cardíacos (30 %), anomalías del tracto urinario, pérdida de audición (50 %), hipotonía y deficiencias de crecimiento postnatal (83 %). En este trabajo se describió un niño de tres años, que habita en el municipio Gibara y presentó los signos principales descritos en esta afección. Al ser una enfermedad de descripción reciente, es importante su delineación clínica para el asesoramiento genético con fines preventivos.

Kabuki syndrome is a rare disease of genetic origin, characterized by varying degrees of intellectual disability, quirky facie and multiple congenital anomalies. It was described in Japan in 1981 by Niikawa and Kuroki; is initially conceived as unique to that country, where an estimated frequency is 1/32000. At present there have been reports from other latitudes. There is a wide spectrum of congenital problems associated with Kabuki syndrome, with big differences between them and other individuals. Some of the most common problems are heart defects (30 %), urinary tract abnormalities, hearing loss (50 %), hypotonia, and postnatal growth deficiency (83 %). In this work, a three -year- old boy, who lives in the Gibara municipality and presented the main signs described for this condition was presented. Being a newly described disease, its clinical delineation is important for genetic counseling for preventive purposes.

The use of craniofacial measurements in pediatrics / 国际儿科学杂志

Anthropometric measurements is of great importance in dysmorphology, which can provide measurement character in dysmophic syndromes. Craniofacial measurement is an substaintial part in anthropometry. However, the data of normal craniofacial measurements are rare and incomplete.