No abstract

A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.

Objective There is clinical heterogeneity among the autistic spectrum disorders (ASD). The presence of dysmorphology (minor physical anomalies; MPAs) is one possible tool for defining a clinically relevant subset in ASD. This study expands on Miles and Hillman's (2000) classifications by using photographs to identify a subgroup with significant dysmorphology among children with ASD, typical development (TYP), and developmental delay (DD). Method Children with ASD, DD, and TYP between 2 and 5 years old were part of the CHARGE study. Pediatric specialists blinded to group classified photographs based on the number of MPAs present: “dysmorphic” if >3 and “nondysmorphic” if <3 MPAs. Results Photographs for 324 children were included. Significantly more children with ASD were classified as dysmorphic compared to TYP children (p=0.007). In children with ASD, seizures were more prevalent in those rated “dysmorphic” (p=0.005). Frequencies were similar between ASD versus DD (p=0.19) after removing those with known syndromes. Conclusion Photographic assessment can be used to detect generalized dysmorphology in children who are often difficult to examine. This has clinical relevance, as children with multiple MPAs can be identified through the use of photographs and prioritized for investigation of brain abnormalities and underlying genetic conditions.

A patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3----qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Computed tomography (CT) and magnetic resonance imaging of this infant's brain demonstrated abnormality of the supratentorial white matter. This may represent either deficiency or delay in myelination or possibly a demyelination process. No abnormalities in white matter were described in seven of 33 previously reported patients whose brains were examined by ultrasound, CT, or autopsy.

Medical personnel who evaluate children for child abuse and neglect (CAN) must be familiar with the many pediatric conditions that resemble CAN in order to avoid over reporting. During a 3-year period, a total of 504 suspected child abuse patients were evaluated by our CAN team. After preliminary evaluation, 264 (52%) of these cases were unsubstantiated. Eighteen of these 264 (7%) were initially considered as cases of CAN but were later proven to be conditions that were misdiagnosed as CAN. Thirteen of the 18 (72%) were readily diagnosed after consultation with a pediatrician or other health care consultant. Investigation of the remaining 5 patients (29%) was more difficult and more extensive, requiring a period of separation from the parents with consequent emotional hardship to the family. These conditions included (1) a patient with osteogenesis imperfecta type IV, (2) a patient with Ehlers-Danlos syndrome, (3) two patients with benign external hydrocephaly of infancy, and (4) a patient with Crohn's disease, who was evaluated for sexual abuse because of chronic abdominal pain. A comprehensive literature review of pediatric conditions that may mimic CAN is presented by diagnostic categories to assist clinicians in differentiating medical conditions that may simulate CAN. Methods to support parents who have been incorrectly reported are discussed.