PMC3447233_01
The family pedigree.
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fig1
The patient was the third child born to Egyptian healthy consanguineous parents; a 28-year-old mother and a 37-year-old father who had another two healthy daughters (Figure 1). The parents described clinical findings similar to the proband; however, there were no medical records or pictures of this affected fetus (Figure 1).
The BPS patient closeup of face showing severe craniofacial anomalies.
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fig2
The mandible and maxilla were severely hypoplastic, with a transverse groove over the chin, while the ears were relatively large, cupped, and low set (Figure 2).
Total view of the proband showing multiple webs at the shoulders, elbows, with huge popliteal webs extending from heel to genitalia, a short sternum and low set umbilicus.
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fig3
There was a particularly huge thick popliteal webs extending from ischia to heels, severely distorting the lower limbs (Figure 3). In addition, five skin tags were observed at the chest (Figure 3). 
(a) Complete syndactyly (mitten hands), absent nails, left single transverse palmar crease and right tag (b) Adactyly of both feet with a single toenail in right foot (c) Ambiguous external genitalia. Note the stenotic anal orifice.
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fig4
Complete syndactyly between all fingers of both hands, flexed fingers, absent thumbs and bilateral single transverse palmar crease were also noted (Figure  4(a)). Multiple skin pits were found at dorsal aspect of hands and feet at sites of absent nails, while two pits were found at the palmar surface of hands, with one skin tag at the right palm (Figure 4).  The anal orifice was stenotic and the iliac and sacral bones were prominent with a sacral dimple (Figure  4(c)).
PMC3447233_02
(a) Facial features of the proband's maternal uncle, (b) truncal obesity and multiple cafe au lait spots. Note large one at the right axilla (c).
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fig5
He also had an oval face with proganthism, short and smooth philtrum, wide mouth with thin lips, and high arched palate (Figure  5(a)). The patient also had a short neck, widely spaced nipples and multiple cafe au lait spots with a peculiar large dark one on the right axilla (Figures  5(b) and 5(c)).
Limb abnormalities in the patient's uncle. Hands photographs and radiographs showing (a)-(c) hypoplastic thumb in the left hand and (d)-(f) syndactyly between the first and second fingers, with an extra nail in the right hand.
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fig6
The left thumb was short with hypoplasia of the thenar eminence and the right hand creases were distorted (Figure 6). Radiographs of hands showed an abnormal hypoplastic trapezoid middle phalanx with duplication of distal phalanx of the right second finger and a hypoplastic first metacarpal in both hands (Figure 6).