作者报告了一例4周岁女孩,她的母亲33岁,父亲36岁,她是第二个孩子、她的外祖父和祖母是亲表兄妹。双亲表型正常。家族史表明一个堂兄妹有小头畸形和一个舅父有腭裂。妊娠期36周,出生时体重2,100克,患儿一岁以内反复患支气管炎和中耳炎,4岁半时体重15公斤,身高94厘米,头围44厘米。该患者具有多种畸形,颅骨额区窄而突出,头发粗而密,额部发际低,鼻梁宽而隆起,耳廓大,低位而斜倾,杏仁样眼裂,略有内眦赘皮和斜视,眼底检查发现血管纤曲,颌略小,悬雍垂分叉,颈部短而粗,关节活动受限,拇指近端位,第5指弯曲,指短且呈纺缍状,两乳间距宽,双侧膝外翻,没有小眼球、眼缺损和三角头畸形,发育过 The author reported on a 4-year-old girl whose mother is 33 years old and whose father is 36 years old. She is the second child and her grandfather and grandmother are pro-cousins. Parents normal phenotype. Family history shows that a cousin has a microcephaly and a uncle has a cleft palate. 36 weeks of gestation, birth weight 2,100 grams, children suffering from bronchitis and otitis media repeated within one year of age, 4-year-old half weight 15 kg, height 94 cm, head circumference 44 cm. The patient has a variety of deformities, skull forehead narrow and prominent, thick and thick hair, forehead hairline low, wide and raised nose, auricle, low tilt, appenoid-like eye crack, a slight epicanthus And strabismus, fundus examination found that vascular fibrillation, slightly smaller jaw, uvula bifurcation, short and thick neck, limited joint activity, the proximal thumb bit, the first five fingers bent, refers to the short and was spin-like, two Breast spacing wide, bilateral knee valgus, no small eyeball, eye defects and triangular head deformities, had developed