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病儿,男性,4(11/12)岁,系第一胎8个月早产,产钳助产。出生后发现头大(当时未测头围),眼睛突出,浅表静脉显露,曾多次诊断为“脑积水”,智力尚可,其父母非近亲婚配。表型正常,身体健康。父系母系家中均无类似患者。体检:身长129cm,体重15kg。BP90/50mmHg。前囟1.5×1.5cm,消瘦,老人面貌,双眼突出,鼻尖似“鸟咀”,唇薄,牙齿参差不齐,色灰无光泽,牙龈萎缩,腭弓高。胸廓前凸,心前区Ⅱ级吹风样收缩期杂音。肺无殊。腹软,肝脾未及。皮肤黑,无光泽,干燥、粗糙、皱纹多。皮下静脉显而易见,皮下脂肪消失。四肢较细,关节相对粗大,手足大似成人,右手拇指六指畸形。两侧睾丸大小正常,有尿道下裂。
Sick child, male, 4 (11/12) years old, is the first child 8 months premature birth, forceps midwifery. Found after birth, the first large head (then not measured head circumference), prominent eyes, superficial veins revealed, has repeatedly diagnosed as “hydrocephalus”, intelligence is acceptable, and their parents non-relatives marriage. Normal phenotype, good health. No paternal family maternal similar patients. Physical examination: length 129cm, weight 15kg. BP90 / 50mmHg. Anterior fontanel 1.5 × 1.5cm, weight loss, the elderly look, prominent eyes, nose like “Bird Tsui,” thin lips, uneven teeth, dull gray color, gingival recession, palatal arch high. Thoracic lordosis, precordial Ⅱ grade hair-like systolic murmur. No special lung Abdomen soft, liver and spleen not yet. Black skin, dull, dry, rough, wrinkles and more. Subcutaneous vein is obvious, subcutaneous fat disappears. Finer limbs, joints are relatively thick, large hands and feet like adults, right thumb six deformities. Normal testicular size on both sides, hypospadias.