[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome].
We report a case of 13-year-old girl with short stature, microcephalus, blepharophimosis, ptosis, bilateral microphthalmia (more prominent in the right), hypogonadism, other minor anomalies, and severe mental retardation. Her mother had two spontaneous abortions. She was born as the second baby of dizygotic twins. The first baby died of diaphragm hernia and heart failure. Her body height, body weight and head circumference were below -3 SD. She did not have epicanthus inversus, hypoplastic teeth, heart anomalies, seizures, muscle weakness, and hearing loss. She was able to handle her wheelchair, but could neither understand nor speak meaningful words. When she looked at something in front of herself, she turned her face up and lifted the left eyelid with her own fingers. She had no somatic change of puberty. Laboratory and radiological examinations demonstrated a normal karyotype, normal bone age, findings of Chilaiditi syndrome, and absence of brain malformation on cranial CT. The serum levels of LH and FSH were high for age and those of estradiol and progesterone were low, suggesting immaturity of ovarian function. These findings suggested the ovarian functions might not get maturations. Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) type I, but not in those with the Ohdo blepharophimosis syndrome (OBS). Our case's condition differs from BPES because of the presence of mental retardation and the absence of epicanthus inversus. We also discuss the distinction from OBS, a disease entity of unknown etiology presenting with a variety of complications.