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PubMed1977

Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.

Two cases of partial trisomy 8q are presented. Common clinical features included severe mental and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis of the back, coxa valga, and short fingers with brachymesophalangy and clinodactyly of the little fingers. Moreover, Case 1 had a frontal meningocele and bilateral talipes equinovarus, and Case 2 had a ventricular septal defect. The chromosome aberration in the two girls arose from a maternal balanced translocation, t(8;18) (q2309;p113). Since the major clinical features of mosaic trisomy 8 are absent in the two girls and in other cases of partial trisomy, both for the distal segment of the long arm and for the short arm of chromosome 8, it is concluded that trisomy of the proximal part of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism syndrome.

Abnormalities, Multiple↗
PubMed1976

Partial trisomy 15q1.

A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial trisomy 15q different phenotypes are due to the second chromosome involved in interchange is supported by the observation of a tertiary trisomy in 2 sibs. It resulted from a balanced reciprocal translocation in the mother t(8q+15q--) and caused an unusual malformation syndrome (mental deficiency, cleft lip and palate, funnel chest, hypospadias).

Child↗
PubMed1998

Longitudinal follow-up of pulmonary function after lobectomy in childhood - factors affecting lung growth.

We examined the changes in pulmonary function values in 27 patients who underwent a lobectomy due to cystic lung disease and compared the results regarding such factors as disease type, age at operation, and preoperative infections. Percent vital capacity (%VC) decreased immediately after lobectomy, but recovered to normal values within 2 postoperative years and remained within or above the normal range. The ratio of residual volume to total lung capacity (RV/TLC) rose temporally with the increase in %VC, but then remained normal after 2 postoperative years. There was no difference in %VC and RV/TLC between diseases, while bronchial atresia showed a significantly lower correlation with percent of forced expiratory volume at 1 s. The older group operated upon at over 4 years of age and the group that had infections before operation showed relatively low %VC and high RV/TLC. Some patients demonstrated extremely low %VC along with funnel chest deformities. Our study suggests that overinflation of the remaining lung compensates VC in the early period after lobectomy while subsequently alveolar multiplication occurs. Factors affecting compensatory lung growth were considered to be operation later than 4 years of age, preoperative infection, and a thoracic deformity.

Child↗
PubMed2004

[Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch].

Noonan's syndrome is characterized by craniofacial anomalies, i. e. ptosis, webbing of the neck and a deep nuchal hairline, as well as skeletal deformities such as short stature, clinodactyly, pectus carinatum and funnel chest and other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations. Noonan syndrome presents with aspects similar to Ullrich-Turner syndrome, but can be found in both male and female patients. In about one half of the patients with Noonan's syndrome cardiovascular anomalies occur, mostly anomalies of the right heart (mainly valvular pulmonary stenosis). Aortic stenosis and coarctation of the aorta are rarely seen. We report on a patient with four sequential potentially stenosing and stenosed parts of the proximal systemic circulation: hypertrophic cardiomyopathy, bicuspid aortic valve, coarctation of the aorta and a hypoplastic aortic arch as a part of Noonan's syndrome. This patient presents with a unique combination of anomalies, as he also shows a Madelung like deformity of the wrist.

Adult↗
PubMed1990

Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy).

An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking non-progressive, complete external ophthalmoplegia and mild ptosis. A muscle biopsy specimen showed non-specific myopathic changes, including mild variation in fiber size, mild type 1 fiber predominance, type 2B fiber deficiency and slightly increased acid phosphatase activity. Complete ophthalmoplegia may thus be seen not only in myotubular myopathy but also in various forms of congenital non-progressive myopathy.

Abnormalities, Multiple↗
PubMed1997

Cardiological and general health status in preschool- and school-age children after neonatal arterial switch operation.

OBJECTIVE: Cardiological and general health status 3-9 years after neonatal arterial switch operation for transposition of the great arteries should be evaluated by non-invasive methods. METHODS: A total of 77 unselected children with intact ventricular septum (75.3%) or ventricular septal defect (24.7%) without or with aortic isthmic stenosis (5.2%) were prospectively examined 3.2-9.4 years (5.4 +/- 1.6) after neonatal switch. Clinical pediatric and cardiological examination, standard and 24 h Holter electrocardiogram, M-mode, 2D-, Doppler and colour Doppler echocardiography were performed. Outcome data were compared to published normals. RESULTS: Reoperation rate was 2.6%, 96.1% were without limitation of physical activity and 98.7% without medication. Compared to normals, growth was adequate, weight and head circumference were slightly reduced. After median sternotomy, 23.4% had abnormal thoracic configuration (16.9% asymmetry, 6.5% funnel chest). ECG and Holter: 93.5% were in sinus, 6.5% in ectopic atrial or junctional rhythm. Incidence of complete right bundle branch block was 15.8% in patients with ventricular septal defect and 5.2% in those without. Ischemic ST-T changes during exercise due to coronary artery occlusion and evidence of old myocardial infarction were found in 1 patient (1.3%) each. Occasional atrial ectopy was found in 27.4%, ventricular ectopy in 15.3%: occasional in 12.5% and frequent (> 30/h) in 2.8% presenting bigemini, couplets and short runs of ventricular tachycardia at rest and during exercise. Echocardiography: Left ventricular function was normal in all. Endsystolic diameter of neoaortic valve annulus was beyond 90% confidence interval for controls in 79.2%, neoaortic root diameter in 100%. Mild aortic insufficiency was seen in 10.4%. No correlation was found between aortic insufficiency and aortic dilatation. Neoaortic stenosis was not seen, mild residual coarctation after end-to-end-anastomosis was found in 2.6%, native coarctation corrected later on in 1.3%. Supravalvular pulmonary stenosis was seen in 29.9% (19.5% trivial, 7.8% mild, 2.6% moderate), mild subvalvular pulmonary stenosis in 1.3%, pulmonary insufficiency in 2.6%. CONCLUSION: The study confirms good midterm results after neonatal arterial switch operation for transposition with or without ventricular septal defect. Long-term observation is necessary to assess rhythm, coronary artery and myocardial function as well as development of neo-aorta and pulmonary artery system.

Child↗
PubMed2001

[Congenital cystic adenomatoid malformation--clinical spectrum and management].

Congenital cystic adenomatoid malformation (CCAM) is one of the most frequent dysplasias of the lung. Diagnosis is often suspected in utero and urges obstetricians, pediatricians, and pediatric surgeons to make appropriate management decisions as to an optimal management for the affected patients. We report on a preterm baby with a gestational age of 33 weeks, suffering from hydrops fetalis and postnatal respiratory distress syndrome, a two-year old boy with clinical signs of a foreign body aspiration, and a seven-year old boy with a funnel chest. In each case, surgical resection was performed, the histology revealing CCAM. Our case report describes the broad clinical spectrum of CCAM. An algorithm is presented, helping to make diagnostic and therapeutic decisions.

Algorithms↗
PubMed2005

[Untreated homocystinuria in adulthood].

HISTORY: Pronounced osteoporosis was discovered in a 44-year-old man presenting with an herniated intervertebral disk. He reported severe myopia, incomplete dislocation of the lenses and retinal detachment. He did not know of any thrombembolic events in the past. On physical examination Marfan-like appearance and a funnel chest were noted. Because of these findings Marfan syndrome was suspected. INVESTIGATIONS: Considering the findings of the x-rays, homocystinuria was suspected as a cause of osteoporosis, despite apparently normal cognitive functions. This diagnosis was confirmed by greatly increased values of serum homocysteine and a positive test for urinary homocystine. Since methionine and homocystine were both elevated, the diagnosis of cystathionin-beta-synthase deficiency was established. DIAGNOSIS, TREATMENT AND COURSE: After taking folate and vitamin B6, the homocysteine level decreased moderately. Betaine and subsequently vitamin B12 were added. Homocysteine values declined markedly on this therapeutic regimen. Two years later the patient was admitted again because of atypical angina. Coronary heart disease could be excluded by coronary angiography. CONCLUSION: Diagnosis of premature osteoporosis should prompt consideration of homocystinuria even in adults. Premature arteriosclerosis, thrombembolic diseases, dislocation of the lens and retinal detachment may give further clues.

Adult↗
PubMed1989

Penetration of ticarcillin/clavulanate into cartilage.

The penetration of ticarcillin and clavulanate into cartilage was investigated in 20 subjects undergoing funnel chest correction. Cartilage samples, obtained 120 or 180 min after administration of ticarcillin/clavulanate (mean dose: ticarcillin 70.0 mg/kg, clavulanate 4.7 mg/kg), were divided into core samples and outer covering portions. After 120 min, the mean ticarcillin in the outer portion was 11.0 mg/kg and that in the core sample was 0.81 mg/kg; at 180 min the mean concentration in the outer portion was 6.47 mg/kg and ticarcillin was undetectable in all but two core samples. Clavulanate was shown to decline with time in spiked cartilage preparations and the results in this investigation may underestimate penetration. Clavulanate was undetectable in most core samples. In the outer portion the mean concentration was 1.30 mg/kg at 120 min and 0.62 mg/kg at 180 min. The penetration gradient requires further elucidation and should be considered when chemotherapy for infection in cartilage is discussed.

Adolescent↗
PubMed1985

Bilateral cryptophthalmos with multiple associated congenital malformations.

An infant girl manifesting bilateral cryptophthalmos with multiple associated malformations was followed from birth. The globes were almost covered by a fold of skin and the findings were interesting in regard to the etiology of cryptophthalmos. The other congenital deformities included scaphocephaly, somewhat low-set ears, accessory tragi, a high arched palate, and funnel chest. The child was operated on at the age of 4 months with relatively satisfactory results, although she died suddenly of acute heart failure 4 months postoperatively.

Abnormalities, Multiple↗
PubMedDate not supplied

Bentall operation for a child with Marfan syndrome: a case report.

Children with Marfan syndrome rarely undergo surgery for annuloaortic ectasia and aortic regurgitation in the first decade. A 7-year-old girl presented with congestive heart failure due to severe aortic regurgitation associated with annuloaortic ectasia (6 cm). She also had funnel chest. She underwent a Bentall operation and sternal turn-over with a satisfactory result. Since the aortic valve cusps had rolled edges, the aortic valve was not spared. Histology of the aortic valve cusps showed myxoid degeneration and fragmentation of elastic fibers.

Aorta↗
PubMed1981

Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including hypertrichosis, synophrys, ocular hypertelorism, ptosis, convergent squint, cleft uvula nad narrow palate, poorly modelled auricles, funnel chest, kyphoscoliosis, umbilical and inguinal hernias, and cubitus valgus. He had normal stature and did not have any apparent malformations.

Chromosome Banding↗
PubMed1977

Spontaneous malformations in squirrel monkey [Saimiri sciureus] fetuses with emphasis on cleft lip and palate.

Gross examination of a group of surviving and nonsurviving squirrel monkeys has revealed a high incidence of cleft lip and cleft primary palate defects with an associated anophthalmia. These defects, as well as single incidences of diaphragmatic aplasia, scoliosis, internal hydrocephalus, and funnel chest, are noted or described and discussed with reference to sex and parentage.

Animals↗
PubMed1996

[Determination of back shape in median sagittal plane using an inclination sensory].

The measurement and assessment of the shape of the human back is in the process of becoming an important area of research. Various measuring techniques have already been developed, including moiré topography, stereoscopic photography and raster stereography. These have been employed in the evaluation of scoliosis, kyphosis, funnel chest and other pathological conditions of the spine. These systems are very complicated (and expensive) since they involve a three-dimensional analysis of the shape of the back. For preventive medical purposes, however, evaluation of the spine in the median sagittal plane alone often suffices. In this study, the inclinations of the back along the spine were measured, and it has been shown that these measurements can be used to reconstruct the shape of the back.

Anthropometry↗
PubMed1975

A family of Holt-Oram syndrome.

A family of Holt-Oram syndrome is reported. Twenty of 41 living members in the last 3 generations were examined. The propositus expressed typically the cardinal features of this syndrome: atrial septal defect, patent ductus arteriosus, cardiac arrhythmias and conduction block of various types, and hypoplasia of the left thumb. Two individuals were clinically diagnosed to have atrial septal defect without any upper limb anomaly, and 3 showed upper limb anomaly without any sign of congenital heart disease. Other 5 members showed only minor abnormalities, such as funnel chest or mild right ventricular hypertrophy on ECG and VCG. Some of the skeletal abnormalities observed were hitherto undescribed ones. These include generalized hypoplasia of left hand and downward displacement of right sterno-clavicular joint.

Abnormalities, Multiple↗
PubMed1992

Anaplastic astrocytoma of an oncocytic type occurring in the cerebellar vermis in Pierre Robin syndrome--case report.

A 44-year-old male with Pierre Robin syndrome and funnel chest was diagnosed with a tumor of the cerebellar vermis and spontaneous pneumothorax. He received tube thoracostomy for pneumothorax and ventriculoperitoneal shunt for hydrocephalus, followed by radiological examination, subtotal removal of the tumor, pneumonorrhaphy, and chemoradiotherapy. Light microscopy of the tumor sample revealed marked pleomorphism of the tumor cells and numerous giant cells, without mitotic figures. Microcystic changes due to vasogenic edema were also evident throughout the tumor. Electron microscopy showed more than 50% of all tumor cells to be oncocytes, with numerous mitochondria in the cytoplasm. The tumor was diagnosed as anaplastic astrocytoma of an oncocytic type.

Adult↗
PubMed1994

Analysis of collagen hydroxypyridinium crosslinks in samples of tissues and urine of patients with inherited connective tissue disorders.

Ion paired reversed-phase high performance liquid chromatography in a gradient system on an Altex Ultrasphere ODS column (3 microns; 7.5 cm x 4.6 mm) protected by an Ultrasphere ODS guard cartrige (5 microns; 5.0 cm x 4.0 mm) was used for the analysis of mature collagen crosslinks-hydroxylysylpyridinoline (HP) and lysylpyridinoline (LP). The content of hydroxypyridinium crosslinks in biopsy specimens of human rib cartilage, rib bone, hip joint capsule, and urine was determined. Analysis of normal tissues revealed the presence of LP (alongside with HP) in embryonal rib cartilage and of HP+LP in the hip joint capsule. The urinary content of excreted HP in children under the age of two years exceeded the HP content in urine samples from children in the 2-12 year age group (t = 2.58, p < 0.05). The pathological material was obtained, for the most part, from patients with funnel chest (FC), both isolated and combined with the Ehlers-Danlos (EDS) and Marfan syndrome (MS). Abnormalities in tissue and urinary hydroxypyridinium crosslinks were observed in patients with clinical features of EDS. LP was found in the rib cartilage of 4 out of 6 patients with FC associated with EDS; no signs of this pathology were detected in individuals with isolated FC.

Adolescent↗