Common phenotypic features described for partial trisomy 13q are craniofacial dysmorphism, highly arched palate, short neck, hemangioma, hexadactyly
, urinary tract/kidney anomalies, umbilical/inguinal hernia, intrauterine growth retardation, and oligohydramnios. This present case involves trisomy for a large segment of proximal 13q (13q12.11 → q31.3).
Postaxial polydactyly (hexadactyly
) was seen in relation to both hands and left foot, and all the nails (of both upper and lower extremities) were short and dystrophic (figure 1B).
He turned out to have Bardet-Biedl Syndrome (a genetic disease characterized by obesity, eye problems, kidney problems, hexadactyly
or six fingers and toes, developmental delay etc.) An uncle and an aunt of Mohammed (refugees in Jordan) died before age 20 with this condition (we took blood samples from the family for genetics study at Bethlehem University.)The first snow in years came and the roof of their dwelling collapsed.
A 24-week-old male fetus was obtained by means of therapeutic abortion with multiples anomalies such as short humerus, hexadactyly
, and CHD including atrial-ventricular septal defect [Figure 1]a and [Figure 1]b, total anomalous pulmonary venous connection [Figure 1]c, and persistent superior left vena cava [Figure 1]d detected by ultrasound and fetal echocardiography scan.