INTRODUCTION The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma. CASE PRESENTATION We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm...

We would like to present a rare case of alobar holoprosencephaly (HPE) in a fetus diagnosed by routine sonography in the second trimester. Structural sonography demonstrated multiple facial anomalies including absent nasal bone, flat facial profile, hypotelorism, fusion of the orbits and proboscis. After counseling, termination of pregnancy was performed by vaginally administered misoprostol. K...

Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant wa...

The partial trisomy 13q.22 is an uncommon chromosomopathy. We present a case with a partial trisomic component 13q22 and a monosomic component 5p15 from paternal origin. This patient developed early menopause and major neurological disorders as leukoencephalopathy, late onset generalised epilepsy and stroke. She also had fatty acids disturbances and their potential relation to the neurological ...

We report on the prenatal diagnosis, genetic studies, and pathology of a case with de novo isochromosome 13q. A 31-year-old primigravida was referred for genetic counselling at 26 weeks' gestation due to the sonographic findings of intrauterine growth retardation and microcephaly. Level II ultrasonograms further demonstrated alobar holoprosencephaly, hypotelorism, polydactyly, a ventricular sep...

Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We are reporting a case of a multiparous woman who was G3,P3,L2, who delivered a full term foe...

Objective Holoprosencephaly (HPE) is the most common forebrain developmental anomaly in humans with prevalence of 1/ 16, 000 in live borns that results from a failure of prosencepholon cleavage. In most of the cases, due to defective primordial mesenchyme, facial anomalies are observed like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitar...

The purpose of the clinical case was to describe combination chromosome abnormaliries in girl with malformations large intestine.Girl A., 1, 9 year old born prematurely. From birth, multiple stigmas dysembriogenesis: poor weight gain, absence an independent stool, marked delayed physical and psychomotor development attracted attention. During doppler echocardiography, a left-sided right- formed...

The face is a reflection of our genome. Facial deformities are oftentimes harbingers of an underlying disease states. For example, decreased Hedgehog activity in the developing craniofacial region causes holoprosencephaly and close-set eyes (hypotelorism). We found that excessive Hedgehog activity, caused by truncating the primary cilia on cranial neural crest cells, led to hypertelorism and fr...