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PubMed2001

Respiratory complications during anaesthesia in Apert syndrome.

BACKGROUND: Clinical experience with anaesthesia for a series of patients with Apert syndrome (craniosynostosis, midface hypoplasia and syndactyly) has not been reported previously. METHODS: In this review, 10 years of experience was examined at our hospital. There were 145 anaesthetics administered to 18 individuals. RESULTS: There were 16 complications (15 were perioperative wheezing) which occurred in seven patients. In four cases, surgery was cancelled due to intractable wheezing. CONCLUSIONS: We could not demonstrate any benefit from preoperative administration of nebulized albuterol. Paediatric anaesthetists should be aware of this high incidence of respiratory complications in Apert syndrome.

Acrocephalosyndactylia↗
PubMed1996

Prenatal diagnosis of type 2 Pfeiffer syndrome.

Pfeiffer syndrome is an autosomal dominantly inherited disorder consisting of craniosynostosis, a flattened midface with a beaked nose and ocular proptosis, and broad and medially deviated thumbs and great toes. Recently, based on clinical findings, the disorder has been divided into three subtypes: type 1, characterized by mild expression; type 2, in which clover leaf skull deformity and multiple congenital anomalies are present at birth; and type 3, which is similar to type 2, but lacks the presence of the clover leaf skull at birth. We describe a fetus in whom sonographic findings of clover leaf skull deformity, ocular hypertelorism, and varus deformity of the great toe led to the prenatal diagnosis of Pfeiffer syndrome type 2. We believe this is the second prenatal diagnosis of Pfeiffer syndrome, and the first time type 2 has been definitely identified in the second trimester of pregnancy.

Abortion, Induced↗
PubMed1999

Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.

Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic DNA analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.

Acrocephalosyndactylia↗
PubMed1999

Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings.

Apert syndrome, an autosomal dominant disorder characterized by craniosynostosis, mid-facial malformations, symmetric bony syndactyly of hands and feet, and varying degrees of mental retardation, is most frequently caused by a de novo mutation. Two missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been found to account for the disorder in approximately 98% of affected patients. Seven cases of prenatal ultrasound diagnosis have been reported. Although one earlier diagnosis has been made in a familial case, sporadic cases have not been definitively diagnosed until the third trimester when craniosynostosis is usually detected. We report a second-trimester molecular diagnosis of a sporadic case, based on the ultrasound observation of fetal 'mitten hands' and craniosynostosis. We discuss the approach to such ultrasound features, given the current availability of molecular diagnosis for Apert syndrome.

Abortion, Therapeutic↗
PubMedDate not supplied

Isotretinoin treatment of acne in a patient with Apert syndrome.

Apert syndrome is an autosomal dominant disease caused by mutations in fibroblast growth factor receptor (FGFR-2) and characterized by premature fusion of the cranial sutures and early epiphyseal closure. The development of widespread, severe, pustular acne around puberty is a characteristic feature in these patients. The FGFR-2 mutation of Apert syndrome has been described in localized nevoid acne lesions, which have been attributed to somatic mosaicism. Isotretinoin has been reported to be useful in controlling this acne. We report the successful treatment of acne with isotretinoin in a teenager with Apert syndrome and review the pathophysiology of acne in this syndrome.

Acne Vulgaris↗
PubMed2002

Thumb radial angulation correction without phalangeal osteotomy in Apert's syndrome.

A surgical technique to correct thumb metacarpophalangeal (MCP) joint radial angulation in patients with Apert's syndrome that obviates osteotomy of the proximal phalanx is described. The anomalous insertion of the abductor pollicis brevis tendon to the distal phalanx radially is released and reattached to the radial base of the proximal phalanx. A radial MCP joint capsulotomy is performed; excision of a cartilaginous prominence on the ulnar aspect of the metacarpal head is required to assist in joint alignment, which is temporarily maintained with a K-wire. Two children underwent bilateral thumb reconstructions using this technique. At 1.5 and 5.6 years after surgery the thumbs were straight and radiographs revealed no residual lateral angulation at the MCP joint. The parents were satisfied with the results. This technique of correction of Apert's thumb radial angulation is simple and reliable and produces satisfactory clinical results.

Acrocephalosyndactylia↗
PubMed1998

Maxillary distraction osteogenesis in Pfeiffer's syndrome: urgent ocular protection by gradual midfacial skeletal advancement.

Distraction osteogenesis is increasingly recognised as a potentially useful technique to achieve the co-ordinated augmentation of craniofacial skeletal and soft tissue. A case is presented where bilateral maxillary distraction was successfully used to advance the midface in the treatment of recurrent ocular dislocation, in a 10-month-old boy with Pfeiffer's syndrome.

Acrocephalosyndactylia↗
PubMed2001

The use of split thickness skin grafts in the correction of Apert's syndactyly.

Stiffness of the interphalangeal joints of the fingers is a constant feature of Apert's syndrome. Because of this stiffness, the author has used split-thickness skin grafts when correcting Apert's syndactyly, thinking that contraction of such grafts post-operatively would not cause any joint contracture or finger deviation. This paper reports the results of eight patients whose average age at first surgery was 6 months. Separation of all digits was accomplished before the age of 2 years. A dorsal rectangular flap and interposing triangular digital flaps were utilised to create the web space and partially cover the skin defects in the fingers. The remaining digital defects were covered with thin split-thickness skin grafts which took fully in all cases. At final follow-up (1-6 years), the areas covered by skin grafts have reduced in size significantly because of skin graft contraction. However, this did not result joint contracture or digital deviation.

Acrocephalosyndactylia↗
PubMed2002

Acrocephalosyndactyly -- the coalesced hand.

Described nearly a century ago, Apert's Syndrome (A.S.) is a rare disorder affecting 1/80,000 children, the mode of inheritance is autosomal dominant or sporadic. Apart from the more obvious skull malformations, extensive and complex hand deformities create several problems for the child's interaction with its environment, preventing normal intellectual development and generating psychological problems as severe as those caused by the craniofacial abnormalities. The deformities seen here are some of the most complex of all congenital hand malformations. Between January 1987 and January 1999, 71 children presenting with hand syndactyly were treated at the Hospital de Dona Estefania (H.D.E.), a total of 177 syndactylies. Of those, 51 had no associated illnesses, 14 had other conditions and six had A.S. All six cases were sporadic; one child had a cleft palate and another suffered from epilepsy. The timing at which the various surgeries were performed was diverse, however, there has been a recent trend towards earlier interventions in order to obtain a functional hand before the age of two. Aesthetic results vary a lot depending on the complexity of the lesions and we sometimes accept a three or four-digit, but functional hand. We achieved hands with a function of 40 to 65 % in all our patients before school age. Due to A.S.' rarity, an effective use of resources and good results can only be obtained in a specialised centre with a multidisciplinary team.

Acrocephalosyndactylia↗
PubMedDate not supplied

Surgical management of the hand in Apert syndrome.

In patients with Apert syndrome, the hands demonstrate many disturbances of soft tissue and bony structures. These include a short thumb with radial clinodactyly, complex syndactyly with a bony fusion involving the index, long and ring fingers, symphalangism and simple syndactyly of the fourth web space. The soft tissue anomalies involve the intrinsic muscles, the extrinsic tendon insertions and the neurovascular bundles. We have reviewed 52 patients who underwent surgical reconstruction of their hands. The aim of this study is to propose a better surgical management in the light of recent publications and to improve our understanding of the syndrome, attempting to reduce the number of procedures and to select the best possible procedures for each patient.

Acrocephalosyndactylia↗
PubMed2006

[Otologic findings in the Apert syndrome].

The Apert syndrome (Acrocephalosyndactyly) is one of the craniosynostotic syndromes, which is often associated with congenial malformation in the temporal bone. We present a case of a 13 year old girl with Apert syndrome. By planning a tympanoplasty we arranged a CT-scan of the temporal bones. It demonstrated next to some other malformations a high jugular bulb on both sides, on the right side just with a membraneous bound to the external ear canal. In a recherche we did not find a higher incidence of high jugular bulb in Apert-syndrome and other craniosynostotic syndromes. However as we expect different malformations of the temporal bone in Apert syndrome we recommend an otorhinolaryngeal examination in each of these patients and a ct scan of the temporal bone before any operation of the middle ear.

Acrocephalosyndactylia↗
PubMed1997

Ultrasound detection of Apert syndrome: a case report and literature review.

Apert Syndrome is characterized by craniosynostosis, bilateral syndactyly, and midfacial hypoplasia. Although it was first described by Wheaton in 1894, it was first diagnosed prenatally only a decade ago-with only five cases reported in the literature. A sixth case is reported here. Prenatal diagnosis of Apert syndrome is reviewed.

Abortion, Therapeutic↗
PubMed1992

[Neuropsychiatric manifestations of Saethre-Chotzen syndrome].

Four psychiatric patients with SCS are described. All exhibited essential tremor, minimal cerebral dysfunctions, speech disorders, bradyphrenia, disorders of personality with psychasthenie and suspicious traits, restrictions, increased irritability and depressivity, one case of mutism due to abnormal reaction and one of alcohol hallucinosis. The possibility of cosmetic handicap caused by craniofacial dysplasia should be taken into mind and perhaps surgically corrected. Because the craniofacial dysplasia is mostly moderate and the syndactylies are slight the SCS remains often unrecognized, but apart from psychic maldevelopment it is significant as the result of frequent association with other malformations.

Acrocephalosyndactylia↗
PubMed1989

[Plastic surgery correction of combination craniofacial malformations. A survey for the obstetrician].

Complex malformations of the skeleton of the cranium and face are mostly first discovered by the obstetrician. Almost all anomalies can be corrected already at infant age by means of update craniofacial surgery, provided they are diagnosed well in time and treatment is initiated directly. Surgery should be performed by a team that is well-versed in craniofacial surgery. A few examples are given to illustrate the most important malformations. Pointers to the best possible time of operation, indication and method are supplied.

Acrocephalosyndactylia↗
PubMed2005

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.

Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human gametes. C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates exclusively from the unaffected father. We previously demonstrated high levels of both 755C>G and 755C>T FGFR2 mutations in human sperm and proposed that these particular mutations are enriched because the encoded proteins confer a selective advantage to spermatogonial cells. Here, we examine three corollaries of this hypothesis. First, we show that mutation levels at the adjacent FGFR2 nucleotides 752-754 are low, excluding any general increase in local mutation rate. Second, we present three instances of double-nucleotide changes involving 755C, expected to be extremely rare as chance events. Two of these double-nucleotide substitutions are shown, either by assessment of the pedigree or by direct analysis of sperm, to have arisen in sequential steps; the third (encoding Ser252Tyr) was predicted from structural considerations. Finally, we demonstrate that both major alternative spliceforms of FGFR2 (Fgfr2b and Fgfr2c) are expressed in rat spermatogonial stem cell lines. Taken together, these observations show that specific FGFR2 mutations attain high levels in sperm because they encode proteins with gain-of-function properties, favoring clonal expansion of mutant spermatogonial cells. Among FGFR2 mutations, those causing Apert syndrome may be especially prevalent because they enhance signaling by FGF ligands specific for each of the major expressed isoforms.

Acrocephalosyndactylia↗
PubMed2006

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.

This study compares the relative effects of advancing male age on multiple genomic defects in human sperm [DNA fragmentation index (DFI), chromatin integrity, gene mutations, and numerical chromosomal abnormalities], characterizes the relationships among these defects and with semen quality, and estimates the incidence of susceptible individuals for a well characterized nonclinical nonsmoking group of 97 men (22-80 years). Adjusting for confounders, we found major associations between age and the frequencies of sperm with DFI and fibroblast growth factor receptor 3 gene (FGFR3) mutations associated with achondroplasia (P < 0.01) with no evidence for age thresholds. However, we found no associations between age and the frequencies of sperm with immature chromatin, aneuploidies/diploidies, FGFR2 mutations (Apert syndrome), or sex ratio in this cohort. There were also no consistent correlations among genomic and semen-quality endpoints, except between DFI and sperm motility (r = -0.65, P < 0.001). These findings suggest there are multiple spermatogenic targets for genomically defective sperm with substantially variable susceptibilities to age. Our findings predict that as healthy males age, they have decreased pregnancy success with trends beginning in their early reproductive years, increased risk for producing offspring with achondroplasia mutations, and risk of fathering offspring with Apert syndrome that may vary across cohorts, but with no increased risk for fathering aneuploid offspring (Down, Klinefelter, Turner, triple X, and XYY syndromes) or triploid embryos. Our findings also suggest that the burden of genomic damage in sperm cannot be inferred from semen quality, and that a small fraction of men are at increased risk for transmitting multiple genetic and chromosomal defects.

Achondroplasia↗