John B Mulliken

OBJECTIVES: To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase, catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS).

STUDY DESIGN: We used next generation sequencing, droplet digital polymerase chain reaction, and single molecule molecular inversion probes to search for somatic PIK3CA mutations in affected tissue from patients ...

BACKGROUND: Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia and capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs.

METHODS: We conducted a genome-wide linkage study on a CM-AVM family. Whole-exome ...

Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one-third had fast-flow vascular lesions. Among them, we ...

Appropriate management of posterior plagiocephaly requires differentiation of occipitoparietal flattening caused by lambdoid synostosis from that caused by deformational forces. In a 2 1/2-year prospective study of 115 infants presenting with unilateral posterior cranial flattening, only one child had synostotic posterior plagiocephaly (lambdoid synostosis), whereas 114 infants had deformational posterior plagiocephaly. Deformational occipitoparietal flattening was more common on the ...

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) ...

BACKGROUND: The GILLS score consists of gastroesophageal reflux disease, preoperative intubation, late surgical intervention, low birth weight, and syndromic diagnosis. The purpose of this study was to test the validity of the GILLS score in predicting success of tongue-lip adhesion (TLA) in managing Robin sequence.

MATERIALS AND METHODS: Infants with Robin sequence were included in the study if they had a TLA for airway compromise subsequent to formulation of the GILLS scoring system, ...

Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal ...

BACKGROUND: Families in the United States adopted approximately 230,000 foreign-born children over the past two decades. Age at adoption and the presence of a cleft palate impact speech and language development. The authors' purpose is to document speech outcome after palatal closure in internationally adopted children.

METHODS: The authors reviewed internationally adopted children with cleft lip-cleft palate or cleft palate who had two-flap palatoplasty from 1987 to 2010. Data collected ...

Hemifacial microsomia (HFM) is associated with a difficult airway. We hypothesized that a difficult intubation would be predicted by radiographic evaluation of the severity of mandibular hypoplasia. A retrospective review of anaesthetic and surgical records of 102 children with HFM from 1986 to 1996 was conducted for radiographic classification of mandibular hypoplasia and degree of difficulty with intubation. Intubation was classified as Grade A-easy, Grade B-difficult, or Grade C-very ...

BACKGROUND: Large numbers of international children with cleft lip-cleft palate are adopted in the United States; many underwent their first operation before arrival.

METHODS: The authors reviewed records of internationally adopted children with cleft lip-cleft palate treated by one surgeon over 25 years. This study focused on anatomical types, frequency/methods of repair, correction of unrepaired deformities, and secondary procedures in this country.

RESULTS: Of 105 internationally ...

Pyogenic granuloma (lobular capillary hemangioma) is a common acquired vascular lesion of the skin and mucous membranes in the pediatric age group. This is a retrospective analysis of 178 patients, 17 years of age and younger (mean age 6.7 yrs). Forty-two percent of the lesions occurred in the first five years of life; only 12% appeared in infants less than 1 year old. The male:female ratio was 3:2. Most patients (74.2%) had no history of trauma or predisposing dermatologic condition. ...

Congenital auricular anomalies can be categorized as either malformed or deformational. Auricular deformations most commonly affect the helix and antehelix. Surgical correction involves sutural modeling, wedge excision, reshaping and reversing cartilage segments, and morselization. Since neonatal auricular cartilage is extremely pliable, we used early splinting to correct deformational ear anomalies. Splints were constructed of leadfree, soft soldering wire threaded into polyethylene ...