Cases reported "Craniosynostoses"

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1/11. Congenital torticollis in association with craniosynostosis.

    The incidence of congenital torticollis in association with plagiocephaly is 1 in 300 newborns, with the torticollis resulting from pathologically sustained contraction of the sternocleidomastoid. Such conditions as facial asymmetries, craniovertebral anomalies, cervical hemivertebra, and mono- or polydysostoses may also be associated with torticollis diagnosed during the neonatal period. With particular reference to synostotic (coronal and/or lambdoidal) plagiocephaly, a clear distinction is made in this paper between posterior neurocranial flattening secondary to the sustained rotation of the skull resulting from torticollis and that seen in synostotic plagiocephaly. The rarity of torticollis with sustained contraction of the sternocleidomastoid muscle relative to the frequency of occipital-parietal flattening in newborn kept in the supine position has not been discussed in the literature and is therefore of clinical importance. In light of the fact that the prognosis and, consequently, the treatment plan vary directly with the presence or absence of synostoses, clinical evaluation also includes cephalometrics, plain skull x-rays, and CT imaging. If the torticollis is associated with neurocranial deformity but synostosis is absent, cervical traction and physiotherapy resolve the symptoms. When, however, the clinical picture is complicated by synostotic plagiocephaly, corrective surgery is necessary, though cervical traction and physiotherapy are essential to provide early and complete cure of the torticollis.
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2/11. Medullary ray nodule of the kidney.

    In this short report we describe three preterm infants who died within the first 8 months of life (corrected age). All presented similar histological features within the kidney, showing medullary ray nodules composed of tubules lined by low columnar epithelium with clear cytoplasm. The immunohistochemical profile of these lesions was identical and suggested origin from distal convoluted tubule or collecting duct. The aim of this report is to draw attention to this entity and to suggest a possible origin of these lesions.
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3/11. Fontaine-Farriaux craniosynostosis: second report in the literature.

    Craniosynostosis is determined by the precocious fusion of one or more calvarial sutures leading to an abnormal skull shape. Additionally, nodular heterotopia is a disorder of neuronal migration and/or proliferation. We describe a very rare multiple congenital anomalies (MCA) syndrome in which craniosynostosis is associated with bilateral periventricular nodular heterotopia (BPNH) of the gray matter and other malformations involving hands, feet, and the gut. Clinical findings and further investigations suggest the diagnosis of craniosynostosis Fontaine-Farriaux type. To the best of our knowledge, this case is only the second report of this MCA syndrome. Based on the clinical and radiological data of the two cases reported, we hypothesize that this malformative complex may be considered a new BPNH/MCA syndrome and propose to classify it as BPNH/craniosynostosis. Previous studies demonstrated that at least two BPNH/MCA syndromes have been mapped to the Xq28 chromosomal region in which a causative gene for isolated BPNH is located. The same authors hypothesized that other BPNH syndromes could be due to microrearrangements at the same Xq28 region. Our case presents several overlapping features with some BPNH/MCA syndromes and it is possible that this new complex disorder may be caused by rearrangements at the same chromosomal region that could alter expression of different genes in Xq28.
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4/11. Another TWIST on Baller-Gerold syndrome.

    Baller-Gerold syndrome is characterized by craniosynostosis and preaxial upper limb malformations. Wide heterogeneity exists with regard to the presence of additional anomalies. Most of the 31 reported cases involve other malformations, including cardiac, central nervous system (CNS), and urogenital anomalies. Baller-Gerold syndrome is thought to have autosomal recessive inheritance. However, Gripp et al. [1999: Am. J. Med. Genet. 82:170-176] recently provided the first evidence for autosomal dominant inheritance with variable expressivity and severity. A nonsense mutation was found in TWIST, a gene associated with Saethre-Chotzen syndrome (SCS). Here we report on a male Caucasian patient of nonconsanguineous parents, with synostosis of the coronal, metopic, and sagittal sutures, and bilateral radial ray hypoplasia. The patient's small, round ears with prominent crus helices, and cervical anomalies are common features of SCS. The father had very mild features of SCS. We identify direct paternal transmission of a novel missense TWIST mutation in the highly conserved Helix II domain of this bHLH-family gene. This report lends further support to the recent findings by Gripp et al. [1999]. Future TWIST mutational analysis on patients with craniosynostosis and radial ray involvement will shed light on whether Baller-Gerold syndrome should be a distinct entity or some cases should be reclassified as a heterogeneous form of SCS.
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5/11. Roberts syndrome, normal cell division, and normal intelligence.

    Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. No case has been reported who had normal intelligence and normal cell division with typical clinical features of the RS. We report a case of a six-year-old male of clinical and radiologic findings of typical RS with normal cell division and normal intelligence.Although he showed growth retardation, his intelligence was normal. Van Den Berg and Francke later reported that 79 out of 100 cases of Roberts syndrome had premature cell separation (PCS). We think that this case may demonstrate severe expression of the Roberts syndrome even though PCS is not exhibited. The limb involvement of this case was symmetrical, and he showed phocomelia of upper limbs, equinus valgus deformity of ankle, aplasia of fibula, and shortness of fifth toes while his hands and feet were normal with 5 rays each. craniofacial abnormalities of this case were typical; he showed scaphocephaly, mild hypertelorism, mandibular hypoplasia, dysplastic helix of ear, narrowing of external auditory canal, and cleft palate with wide gap.This report supports the theory that normal intelligence can make social-personal adjustment possible even if all of the stigmata of Roberts syndrome is present.
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6/11. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

    Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. FGFR3 is known to play a role in controlling nervous system development. We describe the clinical and neuroradiological findings of the first two patients, to our knowledge, affected by HCH and MS, respectively, in whom bilateral dysgenesis of the medial temporal lobe structures has been observed. In both patients diagnosis was confirmed by molecular analysis. They were mentally normal and showed similarities in early-onset temporal lobe-related seizures. In both patients EEG recorded bilateral temporal region discharges. MRI detected temporal lobe anomalies with inadequate differentiation between white and gray matter, defective gyri, and abnormally shaped hippocampus.
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7/11. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.

    Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clinical overlap between BGS, rothmund-thomson syndrome (RTS), and RAPADILINO syndrome is noticeable. Because patients with RAPADILINO syndrome and a subset of patients with RTS have RECQL4 mutations, we reassessed two previously reported BGS families and found causal mutations in RECQL4 in both. In the first family, four affected offspring had craniosynostosis and radial defect and one of them developed poikiloderma. In this family, compound heterozygosity for a R1021W missense mutation and a g.2886delT frameshift mutation of exon 9 was found. In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A>C). In both families, the affected offspring had craniosynostosis, radial defects, and growth retardation, and two developed poikiloderma. Our results confirm that BGS in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses RTS and RAPADILINO syndrome.
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8/11. Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

    The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases. We report a patient with a rare form of Apert syndrome with polydactyly. The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes). The x-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion. Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene. Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available. On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome. This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.
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9/11. A case of unilateral coronal synostosis in a child with craniofacial microsomia.

    Craniofacial microsomia is a congenital malformation complex associated with a wide array of craniofacial and extracraniofacial anomalies. Frontal plagiocephaly has been shown to occur in approximately 5% to 12% of patients with craniofacial microsomia. The etiology of craniofacial microsomia-associated frontal plagiocephaly is unclear; of the cases described in the literature, all but one had physical findings suggestive of deformational plagiocephaly. In the case with equivocal physical findings, radiographic studies showed no evidence of craniosynostosis. Unlike the above cases, we report a documented case of radiologically-confirmed unilateral coronal synostosis in a child with craniofacial microsomia.
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10/11. Frontal plagiocephaly secondary to synostosis of the frontosphenoidal suture. Case report.

    Frontal plagiocephaly may arise from either synostotic or deformational forces. Deformational causes of frontal plagiocephaly can be distinguished from synostotic causes by differences seen on physical examination, which can then be confirmed by skull x-ray films and if necessary three-dimensional computerized tomography (CT). Unilateral coronal synostosis is the main synostotic cause of frontal plagiocephaly, although it has also been seen with fusion of the frontozygomatic suture. In several syndromes presenting with bilateral coronal synostosis, fusion of the frontosphenoidal and frontoethmoidal sutures is also present. The authors report, for perhaps the first time, a case showing synostotic frontal plagiocephaly secondary to fusion of the frontosphenoidal suture alone. Although the phenotypic appearance is superficially similar to that seen in unilateral coronal synostosis, analysis of the cranial base shows markedly different effects: angulation of the anterior cranial base with respect to the posterior cranial base away from the synostotic side and angulation of the posterior cranial base with respect to the midpalatal suture also away from the synostotic side. In unilateral coronal synostosis, both angulations are toward the synostotic side. These effects on the cranial base alter its relationship to the cranial vault and the facial skeleton. Most important, frontal plagiocephaly secondary to fusion of the frontosphenoidal suture should not be overlooked as being deformational. Because this fusion is difficult or impossible to visualize by skull x-ray films, three dimensional CT must be obtained in cases that are not clearly identified as deformational plagiocephaly by physical examination.
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