The records of 954 ambulatory children presenting for initial evaluation to a university developmental pediatrician were reviewed for the prevalence of persistent toe walking and associated tight heel cords. The incidence of persistent toe walking (20.1%) and tight heel cords (12.0%) were found to be higher in 324 children with an autistic spectrum disorder but lower (10.0%/3.0%) in 30 children with Asperger syndrome. These results confirm the previously reported high incidence of toe walking in children with autism and with language disorders and also raise the possibility of a secondary orthopedic deformity that can complicate long-term management of these patients.

The authors report a rare case of multiple intracranial fetuses in fetu, fulfilling Willis' traditional criteria, which include an axial and appendicular skeleton with surrounding organized tissue. This case was ascertained from studies of a full-term female neonate who presented with ventriculomegaly. A CT scan showed intracranial calcifications that were suggestive of an axial skeleton. Her birth weight was 3.176 kg (50th–75th percentile), length was 52 cm (90th percentile), head circumference was 35 cm (50th–75th percentile), and Apgar scores were 7 and 8 at 1 and 5 minutes, respectively. Prenatal ultrasonography studies performed at 12 weeks and 5 days, and 19 weeks and 6 days revealed normal findings. A 37-week prenatal ultrasonography study showed ventriculomegaly and obstructive hydrocephalus, with a possible intracranial teratoma. Cranial imaging at birth with ultrasonography, CT and MR imaging, and MR angiography demonstrated 2 complex intraventricular masses with cystic, solid, and bony elements. A craniotomy with resection of the masses was performed at 3 months of age. The infant survived and is now 12 months old with some developmental progress. Two axial skeletons, with accompanying rib cage and extremities, including well-formed feet and toes, were noted. Both anencephalic structures had skin with hair, fat, skeletal and smooth muscle, and bony structures with bone marrow and focal areas of calcification. Multiple viscera were present and included thymus, bowel, stomach, salivary gland, kidney, adrenal gland, lung, and presumed adnexal structures. A diagnosis of fetuses in fetu was rendered. Chromosomal studies of the child and tissue from the 2 fetuses in fetu showed normal female karyotypes. A single nucleotide polymorphism array analysis from the proband infant and tissue from the 2 identified fetuses in fetu appeared to be genetically identical. These results are consistent with a monozygotic twin embryonic origin of the fetus in fetu tissue, which is a mechanism that has been suggested in previous reports in which karyotypes, blood types, and limited genetic loci have been studied. This is the first report of a rare example of intracranial intraventricular twin fetuses in fetu for which a genome-wide single nucleotide polymorphism assay has confirmed their genetic identity.

An 8-year-old male is presented with clinical findings of Townes syndrome in an otherwise unaffected family. Additional abnormalities possibly representing low frequency associations of this autosomal dominant multiple malformation syndrome included a cardiac defect and hypospadias. Similarities exist between Townes syndrome and VACTERL association, which is generally regarded to be sporadic in nature. Recognition of Townes syndrome as a distinct entity is critical for implementing appropriate management in early childhood, including amplification of hearing impairments. Variable expressivity may occur in this disorder. Careful evaluation must be made, therefore, of the parents of an affected infant with an apparent sporadic case, in order to provide the couple with an accurate recurrence risk at genetic counseling.

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The hypothesis that the presence of macrocephaly might vary with the specific growth chart used was tested by using the Nellahus, CDC, and recent Rollins et al revision head circumference charts to plot the head circumferences of 253 children with neurodevelopmental disorders and with ages between 12 to 36 months; of these children, 59 had a diagnosis of autism spectrum disorder. The CDC and Rollins et al head circumference charts identified more cases of macrocephaly and fewer cases of microcephaly than did the older Nellhaus chart but did not significantly differ in their identification of macrocephaly in children with autism.

Eighty-five infants and children found to have microcephaly had computed tomographic (CT) brain scans performed. A greater degree of microcephaly correlated with the finding of atrophy or ventricular dilation on CT scan. Patients who had known preceding destructive brain insults had the highest incidence of abnormal findings on scans (20/22). Patients who had CNS dysfunction of unknown etiology had the lowest frequency of abnormal findings (12/33); however, in three of these patients, a previously unsuspected brain malformation was found on CT scan. Patients who had other congenital anomalies had an intermediate proportion of abnormal findings on CT scans (20/30), and in 11 of these scans, a previously unsuspected or only partly suspected brain malformation was diagnosed. Discovering previously unsuspected information or finding supportive data regarding the basis for the underlying disease process, being able to provide a more specific developmental prognosis and accurate genetic counseling, justifies the inclusion of a CT scan of the head in the evaluation of the microcephalic child.