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PubMed2000

Poland's syndrome.

Poland's syndrome is characterized by hypoplasia or absence of the breast or nipple, hypoplasia of subcutaneous tissue, absence of the costosternal portion of the pectoralis major muscle, absence of the pectoralis minor muscle, and absence of costal cartilages or ribs 2, 3, and 4 or 3, 4, and 5. Clinical manifestations of Poland's syndrome are extremely variable and rarely are all the features recognized in one individual. Depending on the physician's specialty and the referral pattern, a variable incidence of the anomalous defects is recognized. Syndactyly or bony abnormalities of the forearm are seldom treated by thoracic surgeons.

Diagnosis, Differential↗
PubMedDate not supplied

Molecular diagnosis of Apert syndrome in Chinese patients.

Apert syndrome is a clinically distinct condition characterized by craniosynostosis and severe syndactyly of the hands and the feet. Apert syndrome results from either of two specific nucleotide substitutions, both C-to-G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine if Chinese Apert syndrome patients carry the same mutations, fifteen unrelated Apert syndrome patients and a fetus from a mother with Apert syndrome were studied by the use of restriction analysis and direct sequencing. The results demonstrated that 13 had the Ser252Trp mutation and 2 had the Pro253Arg mutation. Prenatal diagnosis of the fetus was successfully made.

Acrocephalosyndactylia↗
PubMed2000

Analysis of the spectrum of malformations in human fetuses of the second and third trimester of pregnancy with human triploidy.

Triploidy is constituted by an extra haploid set of chromosomes for a total of 69 chromosomes in humans. A "parent-of-origin" effect has been demonstrated by analysis of cytogenetic polymorphisms of triploidy pregnancies. Two distinct phenotypes of human triploid fetuses have been recognized according to the parental origin of the extra haploid set. The first one or triploidy of diandric type occurs when the extra haploid set of chromosomes arises from the father, the second one or triploidy of digynic type occurs when the extra haploid set of chromosomes arises from the mother. Diandric fetuses appear relatively well grown with a large placenta, while digynic fetuses show intrauterine growth retardation with a small placenta. Autopsy archive data files (1982-1998) of the Institute of Pathology, University of Heidelberg (Germany) were examined for fetuses with triploidy. We found 12 well-studied triploid fetuses (gestational age: 20 to 32 weeks). Eleven fetuses corresponded to the digynic type of triploidy and one fetus corresponded to the diandric type of triploidy. The spectrum of external malformations included a dysmorphic face (broad root of the nose, exophthalmos, low-set ears, micro-/retrognathia, microgenia, median cleft lip and/or palate, gnathoschisis, macroglossia), encephalocele, spina bifida, syndactyly, club or rocker-bottom feet, pes equino-valgus. More common internal malformations included ventricular septum defect of the heart, abnormal lobation of the lungs, and renal disease (agenesis, cysts).

Abnormalities, Multiple↗
PubMed2000

Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome.

Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome: In this report we present the prenatal second trimester echographic diagnosis of laryngeal atresia in a male fetus with multiple associated congenital anomalies: oesophageal atresia, crossed fused ectopy of the right kidney, mild cutaneous syndactyly of fingers III-V and toes II-III, distinct facial appearance and single umbilical artery. Bilateral voluminous echogenic lungs were the major echographic diagnostic sign. The associated multiple congenital anomalies were not diagnostic for a distinct, recognizable multiple malformation syndrome.

Abnormalities, Multiple↗
PubMed2000

De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.

De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy developmental delay and mild dysmorphism: We report on a patient presenting with severe epilepsy, hypotonia, developmental delay, blepharophimosis, low-set ears, camptodactyly and tapering fingers, and cutaneous syndactyly of toes II and III of the right foot. The MRI showed some loss of volume of the white matter and delayed myelination, no other specific anomalies were present. Chromosome analysis revealed a translocation involving chromosomes 2 and 18, which was characterized further by FISH using band-specific probes. The possibility of a submicroscopic deletion is discussed and the patient is compared with patients reported in the literature with either 2q21 or 18q22 deletion.

Chromosome Deletion↗
PubMed2000

Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.

A young man was found to have multiple synostosis syndrome type I after presenting with a neck injury causing a cervical spinal cord contusion. Neurological symptoms and signs suggested spinal cord compression. Magnetic resonance (MR) and computerized tomography (CT) imaging of the spine showed spinal canal stenosis with cord compression at C3-C6, a deformed spinal canal flattened in the anteroposterior dimension, vertebral fusions and deformed lateral processes of the vertebrae. He had a long broad nose with hypoplasia of the alae nasi, conductive hearing loss requiring hearing aids, muscular build, stiff spine, prominent acromia, pectus excavatum, ischial prominences, short fifth fingers, fusion at the proximal interphalangeal joints of the fifth fingers with indistinct overlying creases, and toe syndactyly. Spinal cord stenosis is a serious complication of multiple synostosis syndrome, that should be kept in mind in considering the risk of neck or back injury associated with certain sports or other activities. In both the multiple synostosis syndrome and the less severe proximal symphalangism deafness syndrome, mutations have been detected in the human homologue of the noggin gene on chromosome 17q21-q22.

Abnormalities, Multiple↗
PubMed2000

[Poland's syndrome].

Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

Adult↗
PubMed2001

Patient with trisomy 6 mosaicism.

Trisomy 6 and trisomy 6 mosaicism were found in chorionic villi cell culture and short term incubation in a prenatal diagnosis at 12 weeks of gestation in a pregnancy with a growth retarded fetus showing nuchal translucency. The child was born in the 25th gestational week with a number of malformations including heart defects, deep-set ears, cleft right hand, cutaneous syndactylies, and overlapping toes of irregular shape and length. Trisomy 6 was not found in peripheral blood lymphocytes but was confirmed in umbilical cord fibroblasts. Currently, at the age of 2-3/4 years, the development of the child is relatively normal despite considerable growth delay. At the age of two years, she developed a papular erythema clinically suggestive of epidermal nevi. Cytogenetic analysis of fibroblast cultures derived from skin from a right hand finger and the inguinal area confirmed the presence of a trisomy 6 mosaicism. This is the first observation of a liveborn with trisomy 6 mosaicism.

Child, Preschool↗
PubMed2001

Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies.

We report an African American female who is mosaic for partial trisomy of 1q due to a direct duplication of 1q12 to 1q25. The child has hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome. The physical features include micrognathia, cleft palate, low set ears, posteriorly placed thumbs, and syndactyly of the second and third toes of both feet. Other abnormalities include intestinal malrotation, scoliosis, mental retardation, cerebral palsy, and hydrocephalus. There was also a selective deficiency of antibody responses to polysaccharide antigens. Proximal duplication of chromosome 1q is rare and has not been previously associated with hypertrophic cardiomyopathy. Most known gene disorders related to hypertrophic cardiomyopathy are autosomal dominant missense mutations in sarcomeric protein genes; however, none of the sarcomeric genes previously linked to hypertrophic cardiomyopathy are in this region. This finding thus highlights the possibility of additional genetic mechanisms for hypertrophic cardiomyopathy.

Abnormalities, Multiple↗
PubMedDate not supplied

[Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype].

INTRODUCTION: Since the first description of ring chromosome 8 [r(8)] in 1973, only a few patients have been reported. In this report we present a child with this anomaly, and we compare his clinical manifestations with previously reported patients. CLINICAL CASE: A 12 year-old boy presented with low birth weight, mental retardation, microcephaly, short stature, hypotonia, and minor facial anomalies: hypotelorism, bilateral epicanthic folds, long philtrum, thin lips, narrow palate, micrognathia and low-set ears. Digital anomalies were bilateral brachyclinodactily of the fifth finger, and cutaneous syndactyly between second and third fingers. The boy had a pleasant personality but exhibit attachment for people and things with unrestricted affect. Cytogenetic analysis on peripheral white blood cells showed a r(8) chromosome. Parental karyotypes were both normal. CONCLUSIONS: The major features in the boy studied by us were found also in the other cases reported with an r(8) chromosome, but all they were non-specific features, and do not support the existence of a readily recognizable r(8) chromosome syndrome . Follow-up data with special emphasis on the behavioral characteristics are needed for defining an specific behavioral phenotype.

Abnormalities, Multiple↗
PubMedDate not supplied

Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis.

Uncombable hair syndrome was first described some 3 decades ago as "cheveux incoiffables" and is also known as spun-glass hair and pili trianguli et canaliculi. Both inherited (autosomal dominant and recessive with variable levels of penetrance) and sporadic forms of uncombable hair syndrome have been described, both being characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature of hair in this syndrome is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair in at least 50% of hairs examined by scanning electron microscopy. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. Only the scalp hair is affected. Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth enamel anomalies, oligodontia, and phalangoepiphyseal dysplasia. Other syndromes with hair abnormalities may also mimic uncombable hair syndrome clinically and these include, Rapp-Hodgkin ectodermal dysplasia; loose anagen hair syndrome; ectodermal dysplasia, ectrodatyly, cleft lip/palate (EEC) syndrome; and familial tricho-odonto-onchyial ectodermal dysplasia with syndactyly. Unlike other conditions with an uncombable hair component, uncombable hair syndrome alone (cheveux incoiffables, pili trianguli et canaliculi) is not associated with physical, neurologic, or mental abnormalities. In most cases of uncombable hair syndrome, the hair is grossly abnormal in infancy and early childhood, but may have improved manageability later in life. Scanning electron microscopy of hair samples provides definitive evidence for diagnosis of clinically suspected uncombable hair syndrome and eliminates other hair abnormalities from the differential diagnosis.

Chemical Phenomena↗
PubMed2001

A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.

Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, broadening of the thumbs and great toes, and partial soft tissue syndactyly of the hands and feet. Three clinical subtypes have been classified mainly for the purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be associated with the syndrome. However, the correlation between genotype and phenotype is not well defined. Only one patient with Pfeiffer syndrome with no other clinical information has been reported to have had an A344P mutation of the FGFR2. Here we report a Thai male patient with sporadic Pfeiffer syndrome type 1 with impaired intelligence (IQ = 77). Mutation analysis revealed A344P in FGFR2. Identification of the clinical features and molecular defects in more patients is required to better correlate the genotype and phenotype of this complex syndrome.

Acrocephalosyndactylia↗
PubMed1998

[Syndromes 2. Pfeiffer syndrome].

Acrocephalosyndactylias are syndromes characterized by abnormalities of the head (craniosynostosis), the face (hypertelorism, retromaxillism), hands and feet (cutaneous or bony syndactyly). Inheritance is autosomal dominant, but spontaneous cases are described also. The group is divided into several syndromes with varying penetrance and expressivity. As an example of an acrocephalosyndactylia is the Pfeiffer syndrome presented.

Abnormalities, Multiple↗
PubMed2002

Classification for congenital anomalies of the hand: the IFSSH classification and the JSSH modification.

The purpose of a classification for clinical problems which, except for a few specialized centers, occur only sporadically is to provide a system where these cases can be stored. This should allow all involved investigators to speak the same language; so-doing syndromes can be delinated, frequencies of occurence established and results of--different--treatments compared. A classification system should be simple to use, reliable and uniformly accepted. It should allow space for adaptations and/or extensions. The IFSSH proposed a 7 categories classification based on the proposed classification of Swanson et al. in 1976. This classification, was based on, which was thought in the seventies, etiopathogenic pathways. These 7 groups are: I. Failure of formation; transverse (A), or longitudinal (B) II. Failure of differentiation III. Polydactyly IV. Overgrowth V. Undergrowth VI. Amniotic band syndrome VII. Generalized skeletal syndromes. The extended classification proposed by IFSSH was used to classify 1013 hand differences in 925 hands of 650 patients. We found associated anomalies in 26.7%. The classification was straightforward in 86%, difficult in 6.6% and not possible in 7.8%. Group II was the most numerous group including 513 anomalies. We propose to include in this group the Madelung deformity, the Kirner deformity and congenital trigger fingers and trigger thumbs. In group I the radial and ulnar deficiencies, limited to the hand without forearm deficlencies should be Included. Triphalangeal thumbs are a problem, we suggest it to be listed in group III and consider it as a duplication in length. It is not always possible to evaluate the (transverse) absence of the fingers or hand. Longitudinal deficiencies (group IIB), symbrachydactyly (group V), and amniotic bands (group IV) occasionally develop a phenotype similar to the genuine transverse deficiency (group IA). Recently, the Japanese Society for Surgery of the Hand (JSSH) (16) proposed an extension/modification of the IFSSH classification. Based on newer knowledge on teratology, symbrachydactyly in all stages were transfered to group I. Two new groups were introduced. A group "failure of finger ray induction" including typical cleft hand (IC), central polydactyly (III) and (bony) syndactyly (II)--was included. Also a group of "unclassifiable" cases was added. This Japanese proposed classification is a real improvement and most clinicians and surgeons tend to use it in the future.

Female↗
PubMed2002

Dentofacial characteristics in Apert syndrome: a case report.

Apert's syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, cranial base and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a pseudo cleft palate and a skeletal and dental anterior open bite. A case of Apert syndrome is presented with special emphasis on craniofacial characteristics and multidisciplinary approach to treatment. The differences between Apert and Crouzon's syndrome are highlighted.

Acrocephalosyndactylia↗
PubMed1976

The clinical syndrome of triploidy.

The clinical syndrome associated with triploidy is quite typical but is rarely reported in near-term stillborns and newborns. The occurrence of a large placenta with areas of hydatidiform changes in combination with an edematous fetus with macroglossia, facial clefts, eye defects, dysplastic cranial bones, omphalocele, meningomyelocele, syndactyly, and, in males, genital maldevelopment is suggestive of a triploid chromosomal constitution.

Abnormalities, Multiple↗
PubMed2002

Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis.

A male patient is reported with terminal 10q26 deletion, developmental retardation, special behaviour, and multiple clinical anomalies including hypotonia, short stature of postnatal onset, short webbed neck, craniofacial dysmorphism, pectus excavatum with widely spaced small nipples, cryptorchidism with scrotal hypoplasia, limb and musculoskeletal anomalies. The facial dysmorphism mainly consisted of trigonocephaly, a long, triangular and asymmetrical face, hypertelorism with pseudoepicanthus, broad nasal bridge, high-arched palate, retrognathia, low-set dysplastic auricles and, on ophthalmologic examination, strabismus, astigmatism and myopia. Some of these clinical stigmata were suggesting the diagnosis of Noonan syndrome. The extremities showed special features including shortening of proximal limbs, brachydactyly with syndactyly of toes II-III and left fingers III-IV, hypoplastic toenails and joint abnormalities. A diastasis of abdominal muscles was noted and, on X-rays a thoracic scoliosis and bilateral coxa valga were evidenced. Analyses of G- and T-banded chromosomes complemented by FISH analyses using different subtelomere probes detected a terminal 10q26 deletion. Subsequent FISH studies using different probes of the 10q26 region were performed in an attempt to closely define the breakpoint and the extent of the deletion and, thereby, to allow karyotype/phenotype comparison between this patient and a previously reported case with an apparently similar 10q26 deletion.

Chromosome Deletion↗
PubMed2003

[Anesthetic management of patients with Poland syndrome: report of two cases].

Poland syndrome is a rare anomaly characterized by unilateral absence of the pectoral muscles and ipsilateral syndactyly and microdactyly. Associated anomalies include defect of ipsilateral ribs and costal cartilages. We report two cases of Poland syndrome. The first case, 24 year old female patient underwent mammoplasty. Although her pectoral muscles were absent, there was no rib or costal cartilage defect. General anesthesia was maintained with assisted spontaneous respiration through laryngeal mask airway. The second case, 18 year old male patient had rib cage defect. Although the patient was asymptomatic when he was awake, paradoxical respiratory movement could have caused inadequate ventilation during general anesthesia. Anesthesia was maintained with intermittent positive pressure ventilation through endotracheal tube during skin flap plasty of latissimus dorsi muscle. In both cases, there was no respiratory complication during perioperative period.

Adolescent↗