Cloverleaf skull: Kleeblattschädel-deformity syndrome.
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Achondroplasia↗
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Results for “CRANIOSYNOSTOSES”
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Craniosynostosis secondary o ventriculoatrial shunt.
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Cerebral Ventricles↗
Body image and the process of reconstructive surgery.
Newer craniofacial operative techniques produce rapid changes in objective appearance and permit the study of body-image change. In 21 patients with either Crouzon's disease or Alpert's syndrome, a four-factor model of body-image development was applied that emphasizes cognitive growth, perception of body stimuli, stimuli from the environment in the form of comparison, and the response from others. Before a child is of school age, he has substantially defined his body image, therefore corrective surgery must be considered earlier. Although surgical intervention may produce significant objective physical change, there is not a correspondingly rapid change in body image. Four phases in the modification of body image are (1) the decision to undergo surgery, (2) the operative experience, (3) the immediate postoperative period, and (4) the reintegration stage. Recognition of this phasic process will help integrate care of these patients.
Acrocephalosyndactylia↗
Craniosynostosis-radial aplasia: Baller-Gerold syndrome.
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Abnormalities, Multiple↗
Familial trigonocephaly associated with short stature and developmental delay.
A family in which three male members had premature closure of the metopic suture with other suture involvement was studied. Each of the affected persons also had short stature and delayed development. The pattern of inheritance appeared to be X-linked recessive; however, the possibility of autosomal dominant inheritance with low expressivity in women could not be excluded. Findings in these patients did not fit the previously described syndromes of craniostenosis.
Abnormalities, Multiple↗
The incidence of isolated craniosynostosis in the newborn infant.
The incidence of isolated, nonsyndromatic craniosynostosis in a newborn population was found to be 0.6 per 1,000 live births. The distribution by anatomic types was metopic suture, 50%; sagittal suture, 28%; coronal suture, 16.5%; and lambdoid suture, 5.5%. We found a higher incidence of trigonocephaly than has been reported previously.
Craniosynostoses↗
Picture of the month. Antley-Bixler syndrome.
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Abnormalities, Multiple↗
Diagnostic practice and the estimated prevalence of craniosynostosis in Colorado.
BACKGROUND: In the late 1980s, evidence of an epidemic of craniosynostosis in Colorado included reports of clusters from selected high-altitude communities and an investigation showing the high and rapidly rising rates of surgically corrected synostosis. Some evidence suggested that local diagnostic practice could account for the epidemic. OBJECTIVE: To determine the contributions of any excess rates of disease occurrence, surgery-based ascertainment, and diagnosis to the reported epidemic. DESIGN: Population-based birth prevalence study with diagnostic evaluation. SETTING: The Colorado Department of Health, April 15, 1986, to July 14, 1989. PATIENTS OR OTHER PARTICIPANTS: Children in the Craniosynostosis Registry or state birth record files. MAIN OUTCOME MEASURES: Birth prevalence was estimated from registry and birth record data; case classification by suture type and malformation patterns were determined by review of radiographs and medical records. RESULTS: The period birth prevalence of radiographically confirmed nonsyndromic synostosis was 14.1 per 10,000 live births. Of a total of 605 children, 307 (51%) had definite radiographic evidence of synostosis, for which the intrarater reliability was good (except for the coronal suture on plain films) and the interrater reliability was fair or good (except for the metopic suture on plain films). Between the first and third years, case reports fell from 347 to 103. CONCLUSIONS: Diagnostic criteria strongly influenced the rate of synostosis. The rate of radiographically confirmed synostosis was within the range of published estimates. Low diagnostic thresholds, which changed over time, created the semblance of a severe statewide epidemic and may have obscured excess rates of disease at high altitude.
Colorado↗
Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome.
Two brothers with presumed Baller-Gerold syndrome, one of whom was previously diagnosed with the association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) association with hydrocephalus, were evaluated for chromosome breakage because of severe thrombo cytopenia in one of them. Spontaneous and clastogen-induced breakage was markedly increased in both patients as compared to control individuals. Clinical manifestations and chromosome breakage, consistent with Fanconi anemia, in patients with a prior diagnosis of either Baller-Gerold syndrome, reported earlier in one other patient [Farrell et al., 1994: Am J Med Genet 50:98-99], or with VACTERL association with hydrocephalus, recently reported in 3 patients [Toriello et al., 1991: Proc Greenwood Genet Center 11:142; Porteus et al., 1992: Am J Med Genet 43:1032-1034], underline the clinical heterogeneity of Fanconi anemia and raise the question of whether these syndromes are distinct disorders or phenotypic variations of the same disease.
Abnormalities, Multiple↗
Craniofrontonasal syndrome: study of 41 patients.
Of 41 patients with craniofrontonasal syndrome, 35 were female and 6 were male. Although most cases were sporadic, 7 familial instances were found. Craniofrontonasal syndrome represents a unique, incompletely understood X-linked disorder. Unusual manifestations in females included thick, wiry, and curly hair (49%), anterior cranium bifidum (6%), axillary pterygia (9%), unilateral breast hypoplasia (postpubertal; 11%), and asymmetric lower limb shortness (14%).
Adolescent↗
Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia: a new syndrome?
We describe a growth-retarded newborn infant with craniosynostosis, microcephaly, hydrancephaly, oligodactyly, humero-radial synostosis, and normal chromosomes. The combination of anomalies has hitherto been unreported and we consider this to be a "new" syndrome.
Abnormalities, Multiple↗
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.
The acrocephalosyndactyly syndromes (ACS) are a group of clinically similar disorders that share the manifestations of craniosynostosis and a variety of hand and foot anomalies. Here we report on a 5-generation kindred segregating sagittal craniosynostosis and syndactyly of the fingers and the toes in an autosomal dominant manner. The anomalies seen in this kindred comprise a syndrome distinct from other craniosynostosis syndromes. For this novel syndrome, we propose the name craniosynostosis, Philadelphia type.
Acrocephalosyndactylia↗
Genetic study of scaphocephaly.
From a series of 1,408 patients with craniosynostosis hospitalized between 1976 and 1994, 561 probands with non-syndromal isolated sagittal synostosis were analyzed. The prevalence of sagittal synostosis was estimated in the order of 1 in 5,000 children. Family information was obtained from 373 probands distributed among 366 families. The male:female ratio was 3.5:1. There was no maternal or paternal age effect. In 22 of the 366 pedigrees, a high degree of familial aggregation was observed, giving a 6% figure of familial cases. Segregation analysis of 253 families indicates that sagittal synostosis is transmitted as a dominant disorder with 38% penetrance and 72% of sporadic cases. The frequency of twinning was 4.8% with only 1 concordance for sagittal synostosis in a monozygotic twin pair. The possibility of a mechanical pathogenesis in sporadic cases is discussed.
Adolescent↗
Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q.
Hunter-McAlpine syndrome is an autosomal dominant disorder consisting of variable manifestations including craniosynostosis, almond-shaped palpebral fissures, small mouth, mild acral-skeletal anomalies, short stature, and mental deficiency. We report on a 9-year-old boy with this phenotype with more severe skeletal abnormalities than previously described. Chromosomes showed del(17)(q23.1-->q24.2); the more severe phenotype may be explained by the deletion. The deletion also suggests the possibility that the gene for Hunter-McAlpine syndrome might map to that region.
Abnormalities, Multiple↗
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.
We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected relatives. Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the diagnosis of Saethre-Chotzen syndrome. The disease locus was excluded from the two adjacent Saethre-Chotzen candidate regions on 7p by linkage analysis with markers D7S664 and D7S507. This indicates heterogeneity of Saethre-Chotzen syndrome with a locus outside the candidate regions on 7p.
Acrocephalosyndactylia↗
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.
We describe a mutation in the FGFR2 gene in affected members of a large family with inherited autosomal dominant craniosynostosis. The mutation is a G1044A transition at codon 344 of exon B of the gene and results in abnormal splicing of the FGFR2 transcript. The phenotypic effect of the mutation varies greatly. It ranges from minor anomalies such as slight hypertelorism and maxillary hypoplasia to severe manifestations such as brachycephaly and dolichocephaly. The severe cases required surgery because of increased intracranial pressure. The patients cannot be assigned clinically to one of the known craniosynostotic syndromes with mutations in FGFR2, e.g., Crouzon, Pfeiffer, or Jackson-Weiss. This study demonstrates that FGFR2 mutations can result in a spectrum of craniofacial abnormalities even within one family. The known eponymic syndromes of Crouzon, Pfeiffer, or Jackson-Weiss only describe phenotypic extremes of this spectrum. Therefore, the clinical classification should be abandoned and replaced by a molecular one such as "FGFR-associated craniosynostosis syndromes."
Adolescent↗
Sutural exostoses, rib hyperostoses, craniosynostosis, mental retardation with focal fat deposition: Proteus syndrome?
We report on a 3-year-old boy with cartilaginous exostoses of the cranial sutures, rib hyperostosis, macrocephaly, metopic craniostenosis, epibulbar dermoid, hyperpigmented macules on the neck, focal fat deposition, and mild mental retardation with marked speech delay. Several of these manifestations were reported previously as an "unknown" by Thanos et al. [1977], with additional clinical information and a diagnosis of Proteus syndrome [Cohen, 1993].
Adipose Tissue↗