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Meconium ileus is caused by cystic fibrosis; however, mutations in the GUCY2C gene also cause this disease. We report non-cystic fibrosis meconium ileus in an infant of non-Middle Eastern origin with compound heterozygous mutations in GUCY2C.

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This study explores the monitoring process longitudinally among a sample of rural early adolescents and addresses two research questions (1) Does maternal knowledge mediate the relationship between three aspects of the parental monitoring process and adolescent problem behavior: active parent monitoring efforts, youth disclosure, and parental supervision? (2) Are these meditational pathways moderated by the affective quality of the parent-child relationship? Parent efforts to monitor youth and youth disclosure in the Fall of Grade 6 predicted substance use and delinquency in Grade 8. These relations were mediated by increases in maternal knowledge assessed in the Spring of Grade 6, suggesting that the protective effects of these constructs are partially indirect. Supervision was not significantly related to maternal knowledge or problem behavior. Parent efforts to monitor were more strongly related to maternal knowledge in families with high levels of positive affect than in families with low levels of positive affect.

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Wormian bones are accessory bones that occur within cranial suture and fontanelles, most commonly within the posterior sutures. They occur more frequently in disorders that have reduced cranial ossification, hypotonia or decreased movement, thereby resulting in deformational brachycephaly. The frequency and location of wormian bones varies with the type and severity of cranial deformation practiced by ancient cultures. We considered the hypothesis that the pathogenesis of wormian bones may be due to environmental variations in dural strain within open sutures and fontanelles. In order to explore this further, we measured the cephalic index (CI) in 20 purposefully deformed pre-Columbian skulls: 10 from Chichen Itza, Mexico, and 10 from Ancon, Peru, as well as 20 anatomically normal skulls used for medical school anatomy classes. We tested for a direct correlation between the CI and the number of wormian bones in skulls with varying degrees of brachycephalic cranial deformation and found no significant correlation. When the CI was grouped into three categories (normal (CI < 81), brachycephalic (CI 81-93), and severely brachycephalic (CI > 93)) there was a trend toward increasing number of wormian bones as the skull became more brachycephalic (P = 0.039). A second part or our study tabulated the frequency and location of large wormian bones (greater than 1 cm) in 3-dimentional computerized tomography (3D-CT) scans from 207 cases of craniosynostosis and compared these data with published data on 485 normal dry skulls from a manuscript on wormian bones by Parker in 1905. Among cases of craniosynostosis, large wormian bones were significantly more frequent (117 out of 207 3D-CT scans) than in dry skulls (131 out of 485). There was a 3.5 greater odds of developing a wormian bone with premature suture closure (P < 0.001). Midline synostosis, specifically metopic or sagittal synostosis, has more wormian bones in the midline, whereas unilateral lambdoidal or coronal synostosis more often had wormian bones on the contralateral side. Taken together, these data suggest that wormian bones may arise as a consequence of mechanical factors that spread sutures apart and affect dural strain within sutures and fontanelles.

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OBJECTIVES: FG syndrome is an X-linked recessive mental retardation syndrome with ano-rectal anomalies, constipation, and occasional urinary incontinence. Because tethered spinal cord syndrome (TCS) has similar symptoms, we evaluated imaging for TCS in patients with FG syndrome. STUDY DESIGN: Patients were recruited from the International FG Syndrome Support Group, and an FG Syndrome Consensus Group reviewed clinical histories, medical records, and photographs of each responding patient. Results of cranial and spinal imaging studies were available for 12 patients. RESULTS: Of 12 boys with FG syndrome, 6 had hypoplasia of the corpus callosum, and 3 of these had TCS (all with constipation and urinary symptoms). The other 9 did not have urinary symptoms. After surgical untethering, bowel and bladder symptoms improved. CONCLUSIONS: Tethered spinal cord syndrome occurred in 25% of patients with FG syndrome associated with hypoplasia of the corpus callosum and causing bowel and bladder incontinence. A high index of suspicion is necessary for early diagnosis, and timely intervention results in significant improvement in symptomatology.

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OBJECTIVES: Medical dictionaries and anthropologic sources define brachycephaly as a cranial index (CI = width divided by length x 100%) greater than 81%. We examine the impact of supine sleeping on CI and compare orthotic treatment with repositioning. STUDY DESIGN: We compared the effect of repositioning versus helmet therapy on CI in 193 infants referred for abnormal head shape. RESULTS: Eighty percent of the infants had a pretreatment CI > 81%. Their initial mean CI at mean age 5.3 months was 89%, and after treatment, their mean CI was 87% (+/-2 SE = 0.9%) at mean age 9.0 months. For 92 infants with an initial CI at or above 90%, their initial mean CI of 96.1% was reduced to a mean of 91.9%. CONCLUSIONS: Post-treatment CI was 86% to 88%, CI in neonates delivered by cesarean section was 80%, and CI in supine-sleeping Asian children was 85% to 91%, versus 78% to 83% for prone-sleeping American children. Repositioning was less effective than cranial orthotic therapy in correcting severe brachycephaly. We recommend varying the head position when putting infants to sleep.

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OBJECTIVES: We compare positioning with orthotic therapy in 298 consecutive infants referred for correction of head asymmetry. STUDY DESIGN: We evaluated 176 infants treated with repositioning, 159 treated with helmets, and 37 treated with initial repositioning followed by helmet therapy when treatment failed. We compared reductions in diagonal difference (RDD) between repositioning and cranial orthotic therapy. Helmets were routinely used for infants older than 6 months with DD >1 cm. RESULTS: For infants treated with repositioning at a mean age of 4.8 months, the mean RDD was 0.55 cm (from an initial mean DD of 1.05 cm). For infants treated with cranial orthotics at a mean age of 6.6 months, the mean RDD was 0.71 cm (from an initial mean DD of 1.13 cm). CONCLUSIONS: Infants treated with orthotics were older and required a longer length of treatment (4.2 vs 3.5 months). Infants treated with orthosis had a mean final DD closer to the DD in unaffected infants (0.3 +/- 0.1 cm), orthotic therapy was more effective than repositioning (61% decrease versus 52% decrease in DD), and early orthosis was significantly more effective than later orthosis (65% decrease versus 51% decrease in DD).

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OBJECTIVE: To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene. STUDY DESIGN: BFLS behavioral features were compared with other age-matched men with other syndromes and similar intellectual functioning through the use of standardized questionnaires: the Child Behavior Checklist, the Vineland Adaptive Behavior Scales, and the Reiss Personality Profile. Participants included 10 with BFLS, 10 with Prader-Willi syndrome, and 23 with Klinefelter syndrome variants (13 with 48,XXYY, 4 with 48,XXXY, and 6 with 49,XXXXY). RESULTS: Contrary to initial reports, our men with BFLS had no microcephaly, seizures, or short stature. They manifested deep-set eyes with large ears, coarse facial features, small external genitalia, gynecomastia, and obesity. Family A had mild to moderate mental retardation, whereas family B was more severely affected. On Vineland Adaptive Behavior Scales, men with BFLS had higher daily living and social skills than communicative skills. Men with BFLS also had lower internalizing and externalizing symptoms and appeared more social and helpful than men with Prader-Willi syndrome or Klinefelter syndrome variant. CONCLUSIONS: Men with BFLS from 2 families with mutations in the PHF6 gene manifested distinctive clinical features and a low risk for maladaptive behaviors.

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OBJECTIVES: To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS). STUDY DESIGN: Cases of IDM with dysplastic external ears seen at Cedars-Sinai Medical Center were combined with case series in medical literature describing similar patients. Data from a large congenital birth defects registry in Spain were analyzed, and odds ratios (OR) for infants born to either a gestational or preconceptionally diabetic mother to have one of the studied malformations were calculated with 95% confidence intervals. RESULTS: Among the 30 patients in the case series, 50.0% (15) had hemifacial microsomia; 46.7% (14) had hearing loss; 33.3% (10) had facial nerve palsy; 33.3% (10) had vertebral anomalies; 36.7% (11) had cardiovascular defects, of which 45% (5) were conotruncal defects; 26.7% (8) had renal anomalies; 13.3% (4) had limb defects (all radial ray hypoplasia); 10% (3) had DiGeorge sequence; 6.7% (2) had laterality defects; and 6.7% (2) had imperforate anus. Within the cases from the birth defects registry, the odds ratio for OAVS in infants of mothers with gestational diabetes mellitus was 2.28 (95% CI, 1.03-4.82, P =.03), and the OR for ear anomalies in these infants was 1.21 (95% CI, 0.94-1.56, P =.13). When infants of mothers with preconceptionally diagnosed type 1 or 2 diabetes were considered, the OR for OAVS was 1.50 (95% CI, 0.08-9.99, P =.49), and the OR for dysplastic ears was 0.94 (95% CI, 0.48-1.81, P =.85). CONCLUSIONS: Our data indicate that OAVS occurs with a higher incidence in IDM than in the general population. Associated problems include hearing loss, athymia, and cardiac, renal, and limb malformations. Therefore, we recommend that an IDM with features consistent with OAVS undergo a workup including hearing evaluation, skeletal survey, echocardiogram, renal ultrasonogram, and immunodeficiency workup if clinically indicated. Furthermore, noting that most of these defects occur in structures of neural crest origin, we hypothesize that poorly controlled maternal diabetes interferes with cephalic neural crest cell migration.

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This study examined the extent to which the validity scales of the Minnesota Multiphasic Personality Inventory-Adolescent identified Mexican adolescents who were instructed to fake bad. Validity scales data were used to differentiate between nonclinical adolescents instructed to fake bad and both clinical and nonclinical adolescents who received standard instructions. Participants were 59 male and 87 female Mexican high school students and 59 male and 87 female Mexican adolescents from clinical settings. This is the first study onfaking with adolescents in Mexico. The F, Fl, and F2 Scales and the F-K index discriminated adequately between the three different groups. Results were similar to those previously reportedfor adults and adolescents in Mexico and the United States. High positive and negative predictive powers and overall hit rates were obtained in this study. Higher cut scores were needed to discriminate between the groups of girls than between the groups of boys.

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