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PubMed2006

Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert's syndrome.

Acrocephalosyndactyly, or Apert's syndrome, described nearly a century ago, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe development disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, symmetric syndactyly of the hands and feet, cone-shaped calvarium, pharyngeal attenuation and malocclusion. The aim of this study was to assess clinical and computed tomography (CT) imaging patterns of a non-operated patient with Apert's syndrome, correlating the cranium, face and the skull base bone abnormalities. Three-dimensional images were generated from spiral CT scans in order to produce a prototyping model in polyamide material. Clinical examination determined that syndactyly of the hands and feet, pseudocleft in the midline palate and midface hypoplasia were present. The surgical model allowed the analysis of some abnormalities regarding to calvaria morphology, nasal bones and maxilla, improving the criteria for a case diagnosis and surgical plan.

Acrocephalosyndactylia↗
PubMed2004

Computed tomography assessment of Apert syndrome.

Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric syndactyly of the hands and feet. The aim of this study is to assess the clinical and computed tomography imaging patterns of non-operated patients with Apert syndrome, correlating the bone abnormalities of the cranium, face and the skull base. The study population consisted of 5 patients with Apert syndrome. As part of the craniofacial assessment of the imaging center's routine, all patients underwent clinical evaluation and CT (computed tomograph) exam. Three-dimensional images were generated from helical CT scans, using an independent workstation, to evaluate the craniofacial abnormalities of the syndrome. Clinical exam determined that syndactyly of the hands and feet, pseudocleft in the midline palate and midface hypoplasia were features observed in all of the Apert patients. 3D-CT showed that some abnormalities such as bilateral coronal synostosis, calvarial midline defect and reduction in the antero-posterior dimension of the anterior, medial and posterior cranial fossae were present in all cases. In conclusion, the correlation of clinical and CT imaging findings can be useful to assess the main features observed in Apert patients, improving the criteria for examining the patient and diagnosing this condition, and contributing to the therapeutic planning and surgical follow-up.

Acrocephalosyndactylia↗
PubMed2004

Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.

OBJECTIVE: To analyze the dysmorphological variability and to investigate the presence of mutations in the exon 1 of TWIST gene using direct sequencing in Brazilian families presenting with Saethre-Chotzen Syndrome (SCS). METHODS: Four families with 24 patients diagnosed as having features of SCS were studied. Phenotypic characteristics of all patients were inventoried. The investigation protocol included anamnesis, dysmorphological examination, abdominal ultrasound, spine and cranium x-ray, chromosomal analysis on GTG banding, and screening for mutations in the exon 1 of TWIST gene. RESULTS: Frequent facial features included brachycephaly (24 of 24), facial asymmetry (20 of 24), prominent ears crus (15 of 24), low-set ears (14 of 24), maxillary hypoplasia (13 of 24), prominent nasal bridge (13 of 24), ptosis of the eyelids (12 of 24), and low-set frontal hairline (12 of 24). Limb abnormalities such as partial hand cutaneous syndactyly (18 of 24), clinodactyly (13 of 24), and broad great toes (13 of 24), and partial cutaneous syndactyly of the feet (9 of 24) were also detected. Among radiological findings were relevant bicoronal (eight of nine) and unicoronal (one of nine) craniosynostosis, digital impressions (eight of nine), bilateral parietal foramina (two of nine), partial fusion 1 and 2 degrees costal arches (two of nine) and bifid spine on lumbar vertebra (two of nine). GTG-banding chromosomal analyses were normal. No TWIST gene mutations were found. CONCLUSIONS: Affected individuals in these four SCS families may carry mutations in other genes of the same developmental pathway. Considering the complexity of the genes involved in skull-limbs development, an accurate dysmorphological evaluation in patients with SCS and their families is especially important for genetic counseling.

Acrocephalosyndactylia↗
PubMedDate not supplied

Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2)] were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.

Amniotic Band Syndrome↗
PubMedDate not supplied

Cryptophthalmos with an orbital cyst and profound mental and motor retardation.

The cryptophthalmos syndrome generally consists of cryptophthalmia, dyscephaly (cleft lip and palate, nasal and ear defects, meningoencephaloceles, etc.), syndactyly, and urogenital malformations. This disorder is rare. Approximately 55 cases have been reported, with only a few described in the American literature. A three-year-old boy with this rare syndrome is described. Major clinical findings include: asymmetric bilateral cryptophthalmos, unilateral orbital cyst of the nasofrontal area, bilateral anophthalmos, right choanal atresia, right microtia, right auditory canal atresia, hypodontia, ankyloglossia, cartilaginous synchondroses of the cervical vertebrae, and bilateral acetabular dysplasia. Striking features of this case, in addition to the above, were profound mental and motor retardation. Syndactyly and renal anomalies were not observed.

Abnormalities, Multiple↗
PubMedDate not supplied

Poland syndrome (anomaly) with congenital hemangioma: a new association.

Unilateral defect of pectoral muscle and ipsilateral syndactyly constitute Poland syndrome. Absence or hypoplasia of the breast and nipple, axillary hair loss and dermatoglyphic abnormalities have also been reported in this syndrome. The primary defect could be in the development of the proximal subclavian artery with early deficit of blood flow to the distal limb and the pectoral region, resulting in partial loss of tissue in those regions. However, the association of congenital hemangioma with Poland sequence has not been observed so far. Such an association is being reported here in a 1-year-old infant, second-born of nonconsanguineous parents, who also had polydactyly instead of the documented syndactyly.

Arm↗
PubMed1999

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].

OBJECTIVE: Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is characterized by symmetrical cutaneous and bony syndactyly of the hands and feet and a variety of pleiotrophic features of the skeleton, central nervous system, skin and internal organs. PATIENTS AND METHODS: We show the clinical and epidemiological characteristics of the 17 cases of Apert syndrome identified in a consecutive series of 26,956 malformed liveborn infants detected among 1,502,639 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (CEMC) between April 1976 and March 1998. RESULTS AND CONCLUSIONS: The estimated frequency of Apert syndrome in Spain is 0.11 per 10,000 liveborn infants. All of the cases were sporadic and were associated with an increased paternal age. The clinical manifestations of our cases are concordant with the variable expression of the syndrome, with the cardinal features of acrocephaly secondary to craniosynostosis and syndactyly of hands and feet present in all cases, and other anomalies, including cardiovascular (23.5%), cleft palate (23.5%), urinary (5.9%) and central nervous system (5.9%), in some of the patients.

Acrocephalosyndactylia↗
PubMed2000

Ring chromosome 22 and autism: report and review.

Ring chromosome 22 has been described in over 50 cases. A characteristic phenotype has not been fully delineated; however, long face, thick eyebrows, 2-3 toe syndactyly, mental retardation, adequate somatic growth and the absence of major malformations are noted in many cases. An 11-year-old boy with ring chromosome 22 and 46,XY,r(22)(p11.31-q13.31 approximately q13.33) karyotype presented with global developmental delay, autistic disorder, and dolichocephaly, apparently low-set and large ears, midface hypoplasia, and 2-3 toe syndactyly. This is the second report of a ring chromosome 22 with autistic disorder. There appears to be an association between abnormalities of chromosome 22, including r(22), and autistic disorder; however, this occurrence may be a result of the association of autistic disorder with mental retardation rather than specifically due to r(22). The physical findings in this case also suggest that ring chromosome 22 causes a subtle but distinct phenotype which has previously been proposed.

Abnormalities, Multiple↗
PubMed2001

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28.

Abnormalities, Multiple↗
PubMed1992

Polydactyly of the foot: an analysis of 265 cases and a morphological classification.

Three hundred and thirty feet in 265 patients with polydactyly of the foot were classified on the basis of ray involvement and the level of duplication. Anatomic differences in bony structures according to x-ray and operative findings, external appearance of involved digits, associated anomalies, and familial incidence were studied. In medial-ray polydactyly, bilateral occurrence was common, and a higher frequency of associated anomalies was detected. Each involved foot with even the same level of duplication usually had a different morphologic pattern. In central-ray polydactyly, all patients except one had duplications of the second toe, commonly with unilateral involvement. Both components were underdeveloped, with delay in appearance of ossification areas. In two patients, each member of duplication had syndactyly with the neighboring toe, resembling the pattern of polysyndactyly-cleft hand complex. Lateral-ray polydactyl was classified into two new major groups based on ossification pattern and bony alignment: (1) fifty-ray duplication, referring to the medially duplicated supernumerary fifth toe, and (2) sixth-ray duplication, referring to the laterally duplicated supernumerary sixth toe. Fifth-ray duplication was much more frequent than sixth-ray duplication in the Japanese population. Many differences were noted between the two groups of lateral polydactyly. Syndactyly between the fourth and fifth toes was associated only with fifty-ray duplication. Ulnar polydactyly was associated only with sixth-ray duplication. In lateral polydactyly, every patient with bilaterally involved feet had similar groups of polydactyly bilaterally. All the patients in the same family also had similar groups of anomalies. These facts suggest independent etiologic mechanisms for each.

Child↗
PubMed2005

[Apert syndrome: a reported observation].

Apert syndrome is a type of acrocephalosyndactylia that belongs to the group of craniofacial synostoses. It is characterised by craniofacial dysmorphia and syndactyly of hands and feet. It is an uncommon affection that is often transmitted through an autosomal dominant mode, but sporadic cases are frequent. We report the case of a 2 months old baby brought by his parents to the paediatric emergencies for respiratory distress occurring within the framework of a polymalformative syndrome. The examination showed brachycephaly, bilateral exorbitism, syndactyly of the hands and feet and an anal fistula. Echocardiographic examination showed a cardiovascular malformation (interventricular communication), the whole suggestive of Apert syndrome. The child was admitted in intensive care during five days. He died following a respiratory infection. Through this observation the authors illustrate the clinical and evolutionary aspects as well as the therapeutic difficulties of this affection.

Acrocephalosyndactylia↗
PubMed2006

Oral health status of children with syndromic craniosynostosis.

OBJECTIVE: To gain more information on the oral health status of subjects with syndromic craniosynostosis. DESIGN: A cross-sectional study. MATERIALS AND METHODS: The present study took place at the Hospital for Rehabilitation of Craniofacial Anomalies of University of São Paulo (HRAC-USP). The sample was 19 patients with syndromic craniosynostosis (10 Apert, 5 Crouzon, 2 Pfeiffer and 2 Saethre-Chotzen), aged 5 to 15 years. An assessment of plaque, caries and gingival indices, and evaluation of the efficacy of toothbrushing was carried out. The measurements included PHP index, dmft and DMFT indices, gingival index, comparison of PHP before and after non-supervised toothbrushing and between individuals with and without severe syndactyly. RESULTS: The patients displayed high plaque index and poor efficacy of toothbrushing, regardless of the presence of severe syndactyly; despite the plaque accumulation, the gingival index was not proportionally high. There was predominance of the D component for the DMFT index, which combined with the need for restorative treatment in 42.1% of the patients indicates poor access to dental care by these patients. CONCLUSIONS: The results show the need for a dental follow-up programme for these patients. Carers should be informed of the importance in aiding these patients during accomplishment of oral hygiene at home.

Acrocephalosyndactylia↗
PubMed1979

[Dermatoglyphic studies on the congenital hand anomalies (author's transl)].

Dermatoglyphic studies were carried out on the congenital hand anomalies. Clinical materials consisted of 94 cases with hand anomalies and 148 of their normal relatives as a control. An analysis of the dermal ridge patterns was based on "the Memorandum of Dermatoglyphic Nomenclature" described by Penrose. The results were as follows: 1) In hypoplastic fingers, a high incidence of radial loops or arches was noted, which were quite rare in normal fingers. 2) In cases with crooked fingers, a high incidence of simian creases on palms was noticed. 3) In hypoplastic thumbs, higher positions of axial triradii were observed in accordance with the advance of their grades. 4) In cases of cleft hands with the loss of a central digit, a rudimental finger pattern was found on the edge of the cleft. In the absence of two digits in cleft hands, two finger patterns were found locating on either sides of the clefts of the palm. 5) In cases of syndactyly, union of the digital triradii was found on the palm between bases of the two syndactylous fingers. In a case of osseous syndactyly, single finger pattern was observed on the palmar side of the digital phalanges. 6) In congenital amputations of the humerus, rudimental digits or finger nubbins were sometimes found on their stumps. I found whorl patterns on the nubbins, which suggested rudimental finger patterns. 7) In unilateral constriction band syndrome, the finger and palm patterns showed no particular changes except coarse ridges on affected fingers. In macrodactyly, there were normal ridge counts and the increased ridge breadths, which might indicate the anomalies occurring after the stage of formation of finger patterns. 8) In families of the arthrogryposis multiple congenita and camptodactyly, total ridge counts were markedly decreased and the incidence of the arches on fingers was marked increased. Conclusions The studies on dermal ridges on the congenital hand anomalies may give important keys for solving the process and time of occurrence of these anomalies in the early embryonal lives.

Dermatoglyphics↗
PubMed1984

Rehabilitation aspects of Apert's syndrome.

Two children with the unusual condition known as Apert's syndrome are presented. Both have the typical manifestations of the syndrome: craniosynostosis, exorbitism, hypertelorism, maxillary hypoplasia, dental malocclusion, cleft palate, compound syndactyly of the hands and simple syndactyly of the feet. A review of the latest surgical procedures for correction of these defects is presented and the importance of early physical and social rehabilitation is stressed.

Acrocephalosyndactylia↗
PubMedDate not supplied

[A liveborn infant with triploidy (69, XXX): report of one case].

Triploidy is not rare and present in about 1% of all recognized human pregnancies, although most of these pregnancies end in spontaneous abortion during the first trimester. Survival of the fetus up to 20 weeks or beyond is rare. Therefore, liveborn infants with triploidy are very rare. Here is a report on a female liveborn infant with triploidy (69,XXX), who was born to a 27-year-old healthy mother. The clinical features are growth retardation, head-to-body disproportion, wide posterior fontanelle, hypertelorism, micrognathia, bilateral pre-auricular polyps, syndactyly of left 3rd and 4th fingers, syndactyly of right 2nd and 3rd fingers and talipes equinovarus. The infant died 4 hours after birth. The autopsy revealed transposition of great vessels, ventricular septal defect, one lobe of left lung and 2 lobes of right lung and duodenal atresia.

Abnormalities, Multiple↗
PubMed1994

A variant of Poland's syndrome.

A case of Poland's syndrome--the association of congenital thoracic abnormalities with ipsilateral syndactyly--in a newborn infant is described. The infant demonstrated unusual manifestations of the syndrome: there was extension of the liver through the chest, and there was absence of a whole arm rather than hypoplasia and syndactyly. The authors describe the investigation and treatment of this infant, and they discuss the diversity of findings in Poland's syndrome.

Dextrocardia↗
PubMed1997

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

RSH/Smith-Lemli-Opitz (RSH/SLO) syndrome is an autosomal recessive malformation syndrome recently shown to be associated with a severe deficiency of cholesterol biosynthesis and markedly elevated plasma and tissue levels of 7-dehydrocholesterol (7-DHC), the immediate precursor of cholesterol in the Kandutsch-Russell biosynthetic pathway. Because these biochemical abnormalities permit a reassessment of RSH/SLO on biochemical criteria rather than less specific physical criteria, we review here the clinical and biochemical characteristics of our first 80 patients with abnormally increased levels of 7-DHC. The study population included 68 index patients and 12 additional relatives identified by quantification of 7-DHC and cholesterol in plasma, amniotic fluid, or cultured fibroblasts, lymphoblasts, or amniocytes. As demonstrated in other clinical syndromes when redefined biochemically, we have found a wider range of clinical expression of RSH/SLO than previously recognized. These newly recognized atypical RSH/SLO patients included several with no malformations other than syndactyly of the toes and, at the other extreme, patients with frank holoprosencephaly or multiple visceral anomalies who died in utero. Syndactyly of toes 2 and 3 was the most common malformation, occurring in all but one of 80 patients. The best biochemical predictor of clinical severity was the plasma cholesterol level, which decreased with increasing clinical severity. However, at least 10% of patients, including one newborn infant, had normal cholesterol levels at the time of diagnosis and would have been missed without specific quantification of 7-DHC. Not unexpectedly, several patients carrying a clinical diagnosis of RSH/SLO were found to have normal levels of all plasma sterols and apparently normal cholesterol biosynthesis in cultured cells. A comparison of the frequency of anomalies in our biochemically identified patients with similar data from previously reported clinical series suggests that up to 25% of reports of RSH/SLO in the literature may describe genetic conditions other than RSH/SLO with 7-DHC-emia.

Adolescent↗
PubMed1997

Feingold syndrome: report of a new family and review.

Feingold syndrome (or oculodigitoesophagoduodenal syndrome; Microcephaly, Mesobrachyphalangy, Tracheo-esophageal fistula syndrome) is a dominantly inherited combination of hand and foot abnormalities, microcephaly, esophageal/duodenal atresia, short palpebral fissures and learning disabilities, first reported in 1975 (MIM 164280). We report on the seventh family with Feingold syndrome. The propositus is a male infant with esophageal and duodenal atresia, brachymesophalangy of the fifth fingers, bilateral syndactyly of toes 4-5 (and 2-3), relative microcephaly, and facial anomalies. His mother also has microcephaly, similar facial appearance, short fifth fingers with single flexion crease, syndactyly of toes 4-5, and learning disabilities. The maternal sister, brother, and grandmother of the propositus have the same phenotype. The 7 families with Feingold syndrome are reviewed. Intestinal (esophageal/duodenal) atresia/obstruction occurs in approximately 1/3 of the patients with Feingold syndrome.

Abnormalities, Multiple↗