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PubMed1995

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

We describe three families segregating different reciprocal chromosome translocations, t(7;18)(p21.2;q23), t(2;7)(q21.1;p21.2), and t(5;7)(p15.3;p21.2). A total of seven apparently balanced carriers have been identified and all manifest features of the Saethre-Chotzen syndrome, although only two have overt craniosynostosis. In one family the carriers are immediately recognisable by their unusual ears, and clefts of the hard or soft palate are present in all three families. These observations extend previous linkage and cytogenetic evidence that a locus for Saethre-Chotzen syndrome resides in band 7p21.2.

Acrocephalosyndactylia↗
PubMed1997

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Several mutations involving the fibroblast growth factor receptor (FGFR) gene family have been identified in association with phenotypically distinct forms of craniosynostosis. One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is associated with highly specific phenotypic consequences in that mutation at this point in FGFR1 results in Pfeiffer syndrome and analogous mutation in FGFR2 results in Apert syndrome. We now show that a much more variable clinical presentation accompanies analogous mutation in the FGFR3 gene. Specifically, mental retardation, apparently unrelated to the management of the craniosynostosis, appears to be a variable clinical consequence of this FGFR3 mutation.

Acrocephalosyndactylia↗
PubMed1998

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes may play an important role in the occurrence of syndactyly. In order to verify whether the mutations S252W and P253R could also cause a milder phenotype, without involvement of the limbs, we have screened 22 patients with clinical characteristics compatible with Crouzon or Pfeiffer syndrome for these two particular changes. Surprisingly, we identified a Pfeiffer-like patient with the mutation S252W, and therefore we have shown for the first time the occurrence of one of the canonical Apert mutations without severe abnormalities of the upper and lower extremities.

Acrocephalosyndactylia↗
PubMed1976

Cephalic malformations in Saethre-Chotzen syndrome. Acrocephalosyndactyly type III.

Specific anomalies of the skull in eight family members affected with Saethre-Chotzen syndrome were documented by cephalometric analysis of standardized skull radiographs. The most severe deviations included reduced length and abnormal position of the posterior cranial base, low position of the sella turcica, reduced mandibular ramus length, steep mandibular plane angle, and, in adults, reduced facial depth. A feature of the syndrome may be the absence or reduced size of cranial sinuses.

Acrocephalosyndactylia↗
PubMed1981

Progressive bony dysplasia in Apert syndrome.

Ten patients with Apert syndrome (type I acrocephalosyndactyly) were studied. Seven of these patients were observed from infancy for periods ranging from 2 1/2 to 22 years. The patients presented with limited joint mobility and were found to have multiple radiographic abnormalities, including subluxated or flattened humeral heads, irregularities of the glenoid cavity, and early fusion of the calcaneus to the cuboid bone. The limitation of motion and bony defects were progressive, suggesting that Apert syndrome is a generalized dysplasia.

Acrocephalosyndactylia↗
PubMedDate not supplied

Contribution of tridimensional sonography and magnetic resonance imaging to prenatal diagnosis of Apert syndrome at mid-trimester.

A diagnosis of Apert syndrome, suspected at 24 weeks' gestation after conventional sonography showing turribrachycephaly and syndactyly of hands and feet, was confirmed at 26 weeks' gestation by tridimensional sonography and magnetic resonance imaging. This is only the second prenatal diagnosis reported at mid-trimester, excluding cases published from affected mothers or in connection with a context of recurrence. Additional findings have been collected from tridimensional sonography (mid-facial hypoplasia, downslanting palpebral fissures) and from magnetic resonance imaging (verticalization of the clivus and flattened angle of the cranial base).

Acrocephalosyndactylia↗
PubMed2000

Monobloc and midface distraction osteogenesis in pediatric patients with severe syndromal craniosynostosis.

We present 2 children with severe syndromal craniosynostosis who were in need of urgent midface advancement surgery due to recurrent ocular dislocations (Pfeiffer's syndrome type II) or severe upper respiratory obstruction (Crouzon's syndrome). They were operated using distraction osteogenesis, with gradual midface or monobloc advancements. In the Pfeiffer patient, a maxillary distraction of 25 mm achieved effective cessation of ocular dislocations, whereas a 23-mm monobloc advancement in the Crouzon patient achieved cessation of nocturnal arterial desaturations. No major postoperative complications were recorded. Distraction osteogenesis has become a versatile and safe technique that allows for large skeletal advancements.

Acrocephalosyndactylia↗
PubMed2001

Ruptured intracranial mycotic aneurysm: an unusual infectious complication following craniofacial surgery.

The case of a child with Apert syndrome is presented in which the development and rupture of an intracranial mycotic aneurysm occurred secondary to multiple infectious complications following craniofacial surgery. An endovascular procedure was utilized in an attempt to embolize the aneurysm and parent vessel. The patient recovered from her infections, but retained a residual right hemiparesis and left cranial nerve III palsy at the time of discharge. To our knowledge, this is the first report of a mycotic aneurysm developing after a craniofacial procedure. Risk factors leading to aneurysm formation in this case are presented, as well as a literature review of neurological complications following craniofacial surgery.

Acrocephalosyndactylia↗
PubMedDate not supplied

Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology.

Apert syndrome is characterized by coronal craniosynostosis, midfacial hypoplasia, symmetrical syndactyly of the hands and feet described as 'mitten-like' with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor-2 (FGFR2) gene. In the absence of a family history, prenatal diagnosis may be difficult based on sonography alone. We report a case in which the prenatal diagnosis of Apert syndrome was suspected by ultrasonography, established by three-dimensional computed tomography scan (3DTS) and confirmed by the detection of a mutation on amniotic cells. This underscores the usefulness of a sequential diagnostic approach combining 3DTS and molecular biology in cases in which sonography alone is not con- clusive.

Acrocephalosyndactylia↗
PubMed2000

Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

A cohort of 36 unrelated German patients with craniosynostosis syndromes of the Crouzon and Pfeiffer type were analyzed for FGFR mutations. Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST. Mutations in FGFR2 clustered at two critical cysteine residues, 278 and 342, which were involved in 18 of 30 cases (60%). These two mutational hot spots, therefore, are prime targets for an efficient mutation-screening strategy. The spectrum of mutations overlapped the two syndromes and thus reflected the phenotypic similarities observed in both patient groups. In 21 families, the origin of the mutation could be traced by analyzing parents and relatives. Eleven mutations arose de novo, indicating a high mutation rate for FGFR2. In the 10 familial cases, the clinical presentation varied considerably within the pedigree, but both syndromes "bred true," i.e., a Pfeiffer syndrome phenotype was never observed in a Crouzon syndrome family and vice versa.

Acrocephalosyndactylia↗
PubMed2002

Saethre-Chotzen syndrome presenting with incomplete renal Fanconi syndrome.

Here we report on a patient with findings of acrocephaly, craniosynostosis, low frontal hairline, ptosis of eyelids, deviated nasal septum, broad great toes, moderate hallux valgus, bilateral symmetrical complete soft tissue syndactyly of toes 2 and 3, and partial soft tissue syndactyly of toes 4 and 5 consistent with the diagnosis of Saethre-Chotzen syndrome. Additionally, the patient had some unusual findings as part of generalized dysfunction of the renal tubules including hypophosphatemia with renal phosphate wasting, normocalcemic hypercalciuria, hypomagnesemia with renal magnesium wasting, low-molecular-weight proteinuria, decreased serum PTH levels, osteopenia, and nephrolithiasis. In the light of these findings, the diagnosis of incomplete renal Fanconi syndrome was made. In conclusion, on the basis of the present findings, it is difficult to say whether renal tubular dysfunction are somehow connected to the Saethre-Chotzen syndrome or not. Therefore, we consider that this is probably just a coincident. However, further studies may show the connection between renal tubular dysfunction and Saethre-Chotzen syndrome.

Acrocephalosyndactylia↗
PubMed2002

Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region.

We have characterised a 2.4-Mb genomic sequence of a smallest region of overlap (SRO) deleted in the human microdeletion syndrome 7p21 by in silico analysis. Patients harbouring this minimal deletion present in addition to the clinical features of Saethre-Chotzen syndrome (MIM 101400) a distinct learning disability. This genomic region shows a very low gene content. Besides the transcription factor gene TWIST, the Histone Deacetylase 9 (HDAC9), Sorting Nexin 13 (SNX13) and an evolutionarily conserved bHLH transcription factor gene Nephew of Atonal 3 (HNATO3) have been detected previously. Here we describe the localisation and characterisation of the TWIST NEIGHBOR (TWISTNB) gene. Comparison of the predicted proteins of human TWISTNB and mouse Twistnb shows a high degree of conservation. Northern blot analysis of human fetal and adult tissues shows ubiquitous expression in all tissues tested.

Acrocephalosyndactylia↗
PubMedDate not supplied

Prenatal diagnosis of Apert syndrome.

OBJECTIVE: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. METHOD: We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available. RESULTS AND CONCLUSION: Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.

Acrocephalosyndactylia↗