Search PubMed⌕ Search

Biomedical subjects

J B Mulliken

Publications and source records attributed to J B Mulliken.

At least 19 recordsLinked to original sources
PubMed1996

Treacher Collins syndrome: phenotypic variability in a family including an infant with arhinia and uveal colobomas.

We report extreme expression of Treacher Collins syndrome in an infant with arhinia, anotia, absent zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma of iris, choroid plexus, and optic nerves. The Treacher Collins phenotype was mildly expressed in the mother and moderately in the sister. The father had no signs and was not ruled out as the father by DNA fingerprinting, thus making homozygosity by descent in the severely affected son very unlikely.

Adult↗
PubMed1996

Congenital hemangioma: evidence of accelerated involution.

OBJECTIVE: To study the course of hemangiomas that proliferate in utero, are fully grown at birth, and begin to regress during early infancy. DESIGN: We analyzed retrospectively 31 infants with congenital hemangioma seen at Tarnier-Cochin Hospital (Paris) and Children's Hospital (Boston). Diagnosis was made by clinical and radiologic examination and, if necessary, by biopsy. Age, gender, location, appearance, and evolution were noted for each infant. RESULTS: Only 3 of 23 congenital hemangiomas were diagnosed in utero by ultrasonography. The three most common morphologic forms were raised violaceous tumor with ectatic veins (n = 8), raised grayish tumor with multiple tiny telangiectasias, surrounded by a pale halo (n = 8), and flat infiltrative tumor with violaceous overlying skin (n = 5). Two congenital hemangiomas had associated thrombocytopenic coagulopathy (Kasabach-Merritt phenomenon). All the untreated congenital hemangiomas (n = 24) regressed by the time the infants were 14 months of age, leaving either atrophic skin or extra skin. Seven congenital hemangiomas required therapy for complications: three tumors responded to systemic corticosteroid administration and four were resected. CONCLUSION: Hemangiomas can proliferate in utero and manifest as fully developed tumors at birth. These congenital hemangiomas can regress rapidly. This phenomenon raises new questions about the pathogenesis of this tumor.

Antineoplastic Agents, Hormonal↗
PubMed1996

The concept of the sagittal orbital-globe relationship in craniofacial surgery.

Euophthalmos, the normal relationship of the orbital rims to the eyes, is critical to planning and to surgical correction of craniofacial deformities. The four most easily localized anthropometric (soft tissue) landmarks for the sagittal orbital-globe relationship are orbitale superius (os), orbitale inferius (oi), orbitale laterale (ol), and nasion (n), all referenced to apex corneae (acor). The normal adult values for os, oi, ol, and n were extracted from the literature. Age-specific anthropometric landmarks were computed from age-specific Bolton cephalometric templates. A vernier caliper was used to measure preoperatively the surface orbital landmarks in patients with various syndromic and nonsyndromic craniosynostotic disorders. Preoperative measurements were compared with the derived normative data to determine the necessary sagittal orbital translocation for frontal advancement (n=19) and frontal-midfacial advancement (n=2). Postoperative orbital anthropometry documented the degree of normalization of the sagittal orbital-globe relationship. The problems with current instrumentation for orbital anthropometry are discussed.

Adolescent↗
PubMed1996

Langerhans cell histiocytosis: an uncommon disease commonly manifesting in the craniofacial skeleton.

Langerhans cell histiocytosis is an infrequent and enigmatic proliferative disorder that commonly presents in the head and neck region. This is an analysis of 77 patients with Langerhans cell histiocytosis treated at Children's Hospital and Dana Farber Cancer Institute from 1974 through 1993. The study focused on clinical findings, anatomic location and extent of disease, therapy, and outcome. The patients were, on average, under 5 years of age at initial presentation. Over 62 percent of the patients had signs and symptoms referred to the craniofacial skeleton. Osteolytic lesions of the cranium were the most common, followed, in frequency, by scalp rash, osteolytic mandibular tumor(s), enlarged nodes, and gingival swelling or ulceration. Single bony lesions usually were treated with curettage or radiotherapy. Chemotherapy was used commonly for advanced disease with multifocal or disseminated presentation. Initial therapy included moderate doses of single agents; other agents were added if no response was achieved. The natural history of Langerhans cell histiocytosis varied from an acute fulminant course, a waxing and waning chronic disease, to spontaneous regression. Young age at presentation and organ dysfunction predicted a poor prognosis. Statistical analysis showed that there was no significant relationship between outcome and extent of skeletal involvement when controlling for age or organ dysfunction.

Bone Diseases↗
PubMed1996

E-selectin is present in proliferating endothelial cells in human hemangiomas.

E-selectin, an endothelial-cell-specific leukocyte adhesion molecule, may also function in angiogenesis. To investigate its role in a noninflammatory angiogenic disease, E-selectin was analyzed by immunohistochemistry in specimens of proliferative phase and involutive phase hemangiomas. Hemangioma is an endothelial cell tumor of capillary blood vessels that grows rapidly during infancy and regresses spontaneously during childhood. E-selectin expression was high in proliferative phase specimens and was co-localized with dividing microvascular endothelial cells. Relative to the number of blood vessels, E-selectin declined significantly in involutive phase specimens demonstrating that E-selectin correlates with angiogenesis in the tumors. E-selectin was not detected in quiescent endothelium but was co-localized in dividing microvascular endothelial cells in placenta and neonatal foreskin, two tissues with ongoing growth of microvessels. These in vivo studies support the hypothesis that E-selectin functions in angiogenesis and suggest that E-selectin may be a marker for proliferating endothelium.

Antibodies, Monoclonal↗
PubMed1995

Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.

Four cases of Crouzon syndrome, one familial and three sporadic, were investigated for mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene. In the familial case, a mutation was found at codon 340 that exchanged tyrosine for histidine. Mutations at codon 342, detected in the three sporadic cases, replaced a cysteine by another amino acid. While three of the mutations have been described before, the fourth mutation, a C-->G transversion at codon 342 in one of the sporadic cases, has not been recognized previously. Compilation of all exon B mutations in Crouzon syndrome described to date revealed that 6 of the 8 sporadic and 2 of the 9 familial cases have mutations in codon 342. These mutations caused the substitution of cysteine for another amino acid. Given that a mutation in codon 342 was found in 8 out of 17 cases and that in 9 cases the mutation occurred at five additional positions, codon 342 of exon B of the FGFR2 gene may be predisposed to mutations in Crouzon syndrome.

Base Sequence↗
PubMed1995

Congenital fibrosarcoma masquerading as congenital hemangioma: report of two cases.

The authors report on two infants who had large congenital fibrosarcomas that initially were believed to be hemangiomas. Although hemangioma and congenital fibrosarcoma can have a similar presentation, their treatment is dissimilar. The authors review the anatomic findings, hematologic differences, and radiological clues that can help to differentiate congenital fibrosarcoma from congenital hemangioma.

Diagnosis, Differential↗
PubMed1995

Congenital fibrosarcoma masquerading as lymphatic malformation: report of two cases.

Two infants presented with a congenital cervicothoracic mass; both were initially diagnosed as having lymphatic malformation. A biopsy specimen for one child and excision for the other showed that both lesions were congenital fibrosarcomas. Postoperative chemotherapy was administered to both children. One died within 6 months of incisional biopsy from widespread metastatic disease; the other is still being treated. Congenital fibrosarcoma can be confused in its clinical presentation, radiographic findings, and histopathology with lymphatic malformation (cystic hygroma).

Axilla↗
PubMed1995

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.

Cleidocranial dysplasia (CCD) is an autosomal, dominantly inherited disorder of high penetrance affecting skeletal ossification and tooth development. Typically, affected individuals have hypoplastic/aplastic clavicles, patent fontanelles and sutures, supernumerary teeth, and short stature. We have used a candidate locus approach to map the responsible gene in two families with typical features of CCD. Linkage was established between CCD and four loci (D6S426, D6S451, D6S459, TCTE1) that span a region of 10 cM on chromosome 6p. A maximum lod score, Zmax, of 4.1 at a recombination fraction of zero was obtained at D6S451. One highly polymorphic microsatellite from this region (D6S459) showed allelic loss in all affected members of one family with two different sets of primers. The presence of a deletion in this area was confirmed by Southern blot analysis using a probe derived from the amplification product of the D6S459 marker. The data assign a gene for CCD to chromosome 6p21 and suggest that a microdeletion within an area of tight linkage to the CCD-phenotype has been identified.

Base Sequence↗
PubMed1995

Large nasal tip teratoma.

Congenital teratoma rarely occurs in the craniofacial region. We present an infant with a nasal tip teratoma that was documented by ultrasonographic examination. The tumor was excised at 1 day of life, and the splayed upper and lower lateral cartilages were apposed primarily. The remaining redundant skin was excised in a second stage. To our knowledge, this is the first reported case of a nasal tip teratoma.

Adult↗
PubMed1995

Not all hemangiomas look like strawberries: uncommon presentations of the most common tumor of infancy.

The typical appearance of cutaneous hemangiomas of infancy is well known. We studied unusual manifestations of this common tumor. We reviewed over 500 hemangiomas in the registry of the Vascular Anomalies Program at Boston Children's Hospital. We found four uncommon morphologic variations: deep hemangiomas with normal overlying skin (n = 12); macular hemangiomas with a port-wine stainlike appearance (n = 6); bossed hemangiomas with telangiectasia and peripheral pallor (n = 5); and hemangiomas with persistent fast flow (n = 3). Deep and superficial (macular) varieties regressed at a normal rate. Telangiectatic (bossed) hemangiomas, however, involuted rapidly, usually before 1 year of age. Hemangiomas with persistent fast flow required either resection or sclerotherapy for complications in early childhood.

Child, Preschool↗
PubMed1995

A gene for familial venous malformations maps to chromosome 9p in a second large kindred.

Venous malformations are a common form of vascular anomaly that cause pain and disfigurement and can be life threatening if they involve critical organs. They occur sporadically or in a familial form, where multiple lesions are usually present. We have identified a large kindred showing autosomal dominant inheritance of venous malformations. Using this family we confirm linkage of a familial form of venous malformations to chromosome 9p. We suggest that blue rubber bleb naevus syndrome can be considered a particular manifestation of this form of familial venous malformations. The candidate region for this gene encompasses the interferon gene cluster and the MTS1 (p16) tumour suppressor gene.

Chromosome Mapping↗
PubMed1995

OMENS-Plus: analysis of craniofacial and extracraniofacial anomalies in hemifacial microsomia.

This review of 121 patients with hemifacial microsomia (HFM) revealed that 67 (55.4%) had extracraniofacial anomalies. Sixteen patients (13%) had one extracraniofacial anomaly and 51 patients (42.4%) had anomalies of multiple organ systems. There was no gender or side predominance in the cohort with the HFM "expanded spectrum." Central nervous system (CNS), cardiac, and skeletal anomalies were "associated" (i.e., had frequencies of 10% or more). Pulmonary, gastrointestinal, and renal deformities were equivocally associated. Statistical analysis indicated significant associations between several orbital, mandibular, ear, neural, and soft tissue (OMENS) variables and extracraniofacial anomalies. Patients with extracraniofacial structural defects had higher OMENS grades for individual craniofacial anatomic categories. Furthermore, patients with expanded spectrum had higher total OMENS scores. The frequency of cardiac anomalies (26%) supports the model of neural crest involvement in the pathogenesis of both hemifacial microsomia and conotruncal defects. The majority of the heart defects in this study were of either the outflow or septal type. We propose that the OMENS classification system for craniofacial anomalies of HFM be expanded to OMENS-Plus (+) to designate the presence of associated extracraniofacial anomalies.

Abnormalities, Multiple↗
PubMed1995

Bilateral complete cleft lip and nasal deformity: an anthropometric analysis of staged to synchronous repair.

This is a retrospective accounting of a personal evolution from staged to synchronous surgical correction of bilateral complete cleft lip and nasal deformity. Technical development can be separated into three phases: (1) two-stage lip/nasal repair with a banked forked flap and subsequent intranasal transposition of the times (n = 15), (2) two-stage lip/nasal repair and later transection of the banked times (n = 5), and (3) one-stage lip/nasal repair without a forked flap (n = 12) and with closure of alveolar cleft (n = 6 of 12). The premaxillary orthopedic program employed a removable jackscrew device in phases 1 and 2; the Georgiade-Latham pin-retained appliance was used in phase 3. Anatomic outcome was documented by anthropometry: Eight nasolabial measures were compared with normative age-matched data. Mean age at postoperative evaluation: phase 1, 8.1 years; phase 2, 4.6 years; and phase 3, 2.5 years. Nasal height, nasal protrusion, and columellar length were generally within 1 SD of normal growth curves in all three phases. Interalar measures were wide in phases 1 and 2 (1 to 2 SD) and closer to 1 SD of the mean in phase 3. Total lip height tended to be long in phases 1 and 2 and was shortened purposely in phase 3 (1 to 2 SD). Vermilion-mucosa accounted for the long lip in the earlier phases. Cutaneous lip length was 1 to 2 SD or more below normal in all phases.(ABSTRACT TRUNCATED AT 250 WORDS)

Anthropometry↗
PubMed1995

Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using an anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds only. Homogeneity testing on the two-point data gave evidence of heterogeneity at APOC2 under the affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities > = 50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families.

B-Cell Lymphoma 3 Protein↗