OBJECTIVE We assessed the neurodevelopment of infants with and without deformational plagiocephaly (DP), at an average age of 6 months. METHODS The Bayley Scales of Infant Development III (BSID-III) were administered to 235 case subjects and 237 demographically similar, control participants. Three-dimensional head photographs were randomized and rated for severity of deformation by 2 craniofacial dysmorphologists who were blinded to case status. RESULTS We excluded 2 case subjects with no photographic evidence of DP and 70 control subjects who were judged to have some degree of DP. With control for age, gender, and socioeconomic status, case subjects performed worse than control subjects on all BSID-III scales and subscales. Case subjects’ average scores on the motor composite scale were ~10 points lower than control subjects’ average scores (P < .001). Differences for the cognitive and language composite scales were ~5 points, on average (P < .001 for both scales). In subscale analyses, case subjects’ gross-motor deficits were greater than their fine-motor deficits. Among case subjects, there was no association between BSID-III performance and the presence of torticollis or infant age at diagnosis. CONCLUSIONS DP seems to be associated with early neurodevelopmental disadvantage, which is most evident in motor functions. After follow-up evaluations of this cohort at 18 and 36 months, we will assess the stability of this finding. These data do not necessarily imply that DP causes neurodevelopmental delay; they indicate only that DP is a marker of elevated risk for delays. Pediatricians should monitor closely the development of infants with this condition.

Over the past decade there has been a dramatic increase in referrals to specialty clinics, craniofacial centers, plastic surgeons, and neurosurgeons for assessment and treatment of deformational plagiocephaly (DP). Though considered a medically benign condition, preliminary reports suggest that DP may be associated with developmental problems. However, mechanisms to account for this association have not been hypothesized or empirically tested. Although treatment justifications often center on prevention of atypical appearance, little is known about the cosmetic outcomes of treated and untreated children. In this review we hypothesize different etiological pathways linking DP with neurodevelopment (e.g., environmental positioning limitations with and without underlying CNS pathology). We outline directions for research on incidence and prevalence, developmental outcomes, sex differences, determinants of treatment participation, and craniofacial appearance. Despite the paucity of existing research, preliminary findings suggest that children with this condition should be screened and monitored for developmental delays or deficits, as we await more conclusive information from future studies. J Dev Behav Pediatr 26:379-389, 2005. Index terms: plagiocephaly, neurodevelopment, ''back to sleep''.

Three-dimensional reformatted MDCT enables accurate diagnosis of common and rare causes of posterior plagiocephaly in children.

Relatively few patients with Cornelia de Lange syndrome (CdLS) due to SMC1A mutation have been reported, limiting understanding of the full extent of the phenotype. Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions. We present a patient with SMC1A-associated CdLS who had typical features including developmental delay, seizure disorder, feeding difficulties, hirsutism, and cleft palate. She also was found to have three novel features: (i) left ventricular non-compaction (LVNC) cardiomyopathy; (ii) microform cleft lip; and (iii) severe hyperopia and astigmatism. These features have implications regarding potential insight into the pathogenesis of the disorder, screening, and medical management. Hypertrophic cardiomyopathy has previously been reported in SMC1A-associated CdLS, but to our knowledge this is the first reported child with LVNC. Previous reports have included children with isolated clefts of the palate without involvement of the lip. When cleft palate alone is associated with a disorder, the underlying pathophysiology for clefting is sometimes secondary due to mechanical blocking of the fusion of the palatal shelves with the developing tongue. The presence of microform cleft lip in this patient suggests that the pathophysiology of clefting in SMC1A is primary rather than secondary. Few studies report ophthalmologic findings specific to SMC1A. Based on these findings, LVNC cardiomyopathy and cleft lip should be considered features of SMC1A-associated CdLS. All patients should receive echocardiogram and undergo thorough ophthalmologic evaluation as part of routine CdLS care. © 2016 Wiley Periodicals, Inc.

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