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Although CCHD screening in a tertiary care birth hospital may not detect many new cases of CCHD, it can detect other important diseases in newborns. Modifying the screening algorithm to 1 repeat pulse oximetry test instead of 2 may detect additional infants with significant disease without a substantial increase in the false-positive rate.

Here we describe mixoploidy in a newborn triplet female. In order to learn more about the underlying mechanism resulting in mixoploidy, we studied the parental origin of the extra haploid chromosome complement using highly informative short tandem repeat polymorphisms (STRPs). Case reportThe proband was the third of female triplets born at 35 weeks of gestation weighing 1580 g to a 31 year old gravida 2 para 1 white woman. The pregnancy was induced by clomiphene because of a previous history of infertility. Serial prenatal ultrasonography showed cerebral ventriculomegaly in this fetus, but no other abnormalities. Each triplet had a separate gestational sac and placenta. Delivery was performed by a caesarian section. The family history was unremarkable. The two other triplets were not dysmorphic.The proband was small for gestational age and manifested several dysmorphic features. Craniofacial findings included a broad forehead, frontal alopecia, small anterior and posterior fontanelles, a short upturned nose with depressed nasal bridge, incomplete helical folds, and micrognathia ( fig 1A). The upper extremities showed bilateral camptodactyly with digitalised thumbs, incomplete palmar creases, and cutaneous syndactyly of the left third and fourth fingers (fig iB). The big toes were short bilaterally, and a leg length discrepancy of 1 cm was present. The infant was diffusely hypotonic.Echocardiography showed no abnormalities. Abdominal ultrasonography showed prominent renal lobar architecture bilaterally, but no hydronephrosis. Cranial ultrasonography indicated agenesis of the corpus callosum and mild bilateral ventriculomegaly, findings confirmed by cranial CT. An electroencephalogram was normal, as was an ophthalmological examination. Brainstem auditory evoked responses showed moderate bilateral sensorineural hearing loss.During infancy, the infant developed intractable myoclonic seizures requiring anticonvulsant therapy. Her development progressed initially, but regressed globally after the onset of seizures. She developed precocious puberty with the onset of menarche at the age of 6 months, associated with raised FH and LH levels. Repeat brainstem auditory evoked responses showed moderate sensorineural hear-

The occurrence of an X-linked form of torsion dystonia in the Philippines was demonstrated by the genetic and biochemical analysis of affected males and their relatives. Thirty-six affected males were ascertained in 21 families by clinical neurologic evaluation. The mean age-of-onset of dystonia was 37.9 years with a range from 12 to 52 years. Neurologic symptoms began focally and progressed to either segmental or generalized involvement in all cases. Generalized dystonia developed in 78% of the patients after a mean duration of 6.8 years from the onset of symptoms. A family history of dystonia was elicited in 17 of the 21 kindreds, accounting for a total of 64 males and one possibly affected female, distributed among 224 individuals in 33 sibships. In 18 of the 33 sibships, 2 or more brothers reportedly had dystonia. There were 12 kindreds with a history of multigenerational dystonia. In those, only males of maternal ancestry were affected, and in 7 of these families, maternal grandfathers reportedly had dystonia. There were no instances of male-to-male transmission. Cytogenetic analysis did not show any X chromosome abnormalities in 4 affected propositi. Several secondary causes of torsion dystonia were excluded, including Wilson disease, aminoacidopathies, organic acidurias, oligosaccharidoses, and chronic hexosaminidase A and B deficiency. These findings substantiate the existence of an X-linked recessive form of primary torsion dystonia.