THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).
THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).
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面部预测大脑：中位面部异常对前脑无裂畸形（ARHINENCEPHALY）的诊断意义。
DOI：
10.1542/peds.34.2.256
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发表时间：
1964
期刊：
影响因子：
8
通讯作者：
C. Palmer
中科院分区：
文献类型：
--
作者：
W. Demyer;W. Zeman;C. Palmer
本文报道两例眼眶低张、扁平鼻、双侧唇腭裂伴人中上颌骨发育不良的病例。两名患者均有无前脑畸形，这是一种脑缺陷，其特征是前脑分裂停止，额叶和嗅球没有或不完全发育。这两个患者是一系列中位面脑畸形的中间阶段，从眼球旋转开始，然后随着脸部和大脑向正常方向转变，延伸到筛头畸形、头颅畸形、正中唇裂，这里的两位患者。这些患者的形态是脑畸形类型的诊断依据。仔细注意面部-大脑的关系将大大增加目前可以识别的诊断相的数量。生理缺陷包括体温过低、呼吸暂停、癫痫发作、僵硬和精神运动发育不足。
有用的诊断检查包括头颅X线片，以显示眼眶低眼压和眼眶缺如，脑电检查，皮纹检查，染色体检查，有时还包括气脑检查。
一些全前脑患者，如我们的第一个患者，有很少的或没有头外畸形，有46号染色体核型。其他人，如患者2，有许多头外畸形。文献表明，后一类患者易发生13-15三体。无论头外畸形或核型如何，面部都能预测全前脑。
Two patients with orbital hypotelorism, flat nose, and bilateral lateral cleft of lip and palate with a hypoplastic philtrumpremaxilla Anlage are described. Both patients had holoprosencephaly (arhinencephaly), a brain defect characterized by an arrest in prosencephalic cleavage with no or incomplete proplasia of frontal poles and olfactory bulbs. The two patients are an intermediate stage in a graded series of median facio-cerebral malformations which begins with cyclopia, and then, as face and brain transform toward normality, extends through ethmocephaly, cebocephaly, median cleft lip, and the two patients presented here. The facies of these patients are diagnostic of the type of brain malformation. Careful attention to face-brain relationships will significantly extend the number oif diagnostic facies which currently can be recognized. Physiological defects include poikilothermia, apnea, seizures, rigidity, and lack of psychomotor development.
Useful diagnostic studies include skull roentgenograms to show orbital hypotelorism and absent crista galli, electroencephalography, dermatoglyphics, chromosome studies, and sometimes pneumoencephalography.
Some holoprosencephalic patients, such as our first patient, who have few or no extracephalic malformations, have a 46 chromosome karyotype. Others, such as Patient 2, have many extracephalic anomalies. The literature suggests that the latter patients are apt to have 13-15 trisomy. The face predicts the holoprosencephalic brain irrespective of extracephalic anomalies or karyotype.