Partial 1p monosomy in a physically and mentally retarded boy

An 8-year-old boy is reported with marked mental and physical retardation, microcephaly, hypertelorism, mongoloid palpebral fissures, hypoplasia of the maxillary portion of the face, and other discrete anomalies. Deletion of the distal portion of the short arm of the chromosome 1 and the karyotype 46,XY, del(1)(p33----pter) was detected.     

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns. The father and 3 other family members carried a balanced translocation between chromosomes 9 and 13, t(9;13)(q13;q12).     

Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype

Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and retrognathia. A retinal dystrophia which may be specific of the syndrome consists of a hyperpigmentation and, in three patients, yellow-white spots of the macula. The brain shows mild dilation of the lateral ventricles.     

Clinical findings in an Arab boy with ring (14)(mos 46,XY,r(14)/45,XY,-14)

A five-month male Arab child with clinical features of ring(14) is reported. He had recurrent seizures and chest infections, microcephaly, elongated face, short palpebral fissures, broad nasal bridge, long philtrum, fish-like mouth with thin lips, micrognathia, low-set ears and retinal pigmentation with yellow-white spots on the maculae. In addition brachydactyly of fingers and toes, hypoplastic scrotum and mental deterioration were present.     

A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up

A record of a natural history of a long-term case study devoted to monosomy 5p (Cat-cry/Cri-du-chat) syndrome has been described rarely. Knowledge on the range of the changes in phenotype attributable to advancing age can be useful in clinical diagnosis of monosomy 5p at the different developmental stages, including adolescence, as well in prognosis for genetic counseling. In this case a detailed analysis of the morphologic phenotype in a girl with del(5)(p13.3) observed from 4 months to 18 years of age is reported. The comparative analysis of the girl's phenotype in different developmental stages has revealed that microcephaly, flat occipital region, face asymmetry, wide spaced palpebral fissures, epicanthic folds, small mouth fissure, thin mucous lip, small and low set ears and short IV metacarpals has not changed with advancing age. However, facial asymmetry was more evident, frontal tubers were less prominent, nasal root and back became prominent nasal back became elongated, the subnasal region was shorter and marked malocclusion appeared.     

Partial trisomy 10q

Summary Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases; the clinical data justify the conclusion that cases with trisomy 10q show a specific syndrome of mental retardation and malformation characterized by psychomotor retardation, growth retardation, hypotonia, high forehead, flat face, fine and arched eyebrows, antimongoloid slant of the eyes, narrow palpebral fissures, hypertelorism, short nose, bowshaped mouth, short neck, (kypho)scoliosis, and in some cases microcephaly.     

Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl

We report on a 12-year-old girl presenting with mental retardation, trigonocephaly, midface hypoplasia, upward-slanting palpebral fissures, arched eyebrows, bilateral epicanthal folds, hypertelorism, a flattened nasal bridge, a short nose, anteverted nares, a long philtrum, a small mouth, micrognathia, low-set ears, a short neck, long digits, flexion deformity of the fingers of the hands, hypoplasia of the labia majora, hyperplasia of the labia minora, flat feet, dysphagia, frequent regurgitation, prominent esophageal dilation, and achalasia. Seizures were noted since 5 years of age. Cytogenetic analysis of her peripheral blood revealed a karyotype of 46,XX, der(9)t(1;9)(p36.22;p22.2)pat. Achalasia, an uncommon esophageal motor disorder, has not been previously described in association with either a deletion of 9p or a duplication of 1p.     

SED-brachydactyly and distinctive speech: report of two new cases

We describe two unrelated patients and the mother of one of them showing clinical and radiological features as those previously described in the spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS, also named Fantasy Island syndrome or Tattoo dysplasia) clinically characterized by short stature with acral shortness, distinctive face, mild blepharophimosis, upslanted palpebral fissures, abundant eyebrows and eyelashes, thick and abundant hair and coarse voice; and radiologically by brachymetacarpalia, brachymetatarsalia and brachyphalangia of all fingers and toes, short and broad long bones with normal morphology and small pelvis. The clinical and radiological features present in mother and son suggest a probable autosomal dominant mode of inheritance and variable expressivity.     

Preoperative anthropometric dysmorphology in metopic synostosis

Anthropometric identification of dysmorphology in craniofacial anomalies, including the craniosynostoses, provides invaluable assistance in clinical diagnosis as well as offering a technique for interpreting possible deformities in skeletal remains. Premature closure of the metopic suture is a rare form of craniosynostosis, representing about 4% of clinically diagnosed synostoses. Accompanying this closure are defects of the head and face, particularly the upper face and orbits. To identify quantitatively the craniofacial dysmorphology associated with metopic synostosis, 50 patients with a diagnosis of primary (nonsyndromal) metopic synostosis were examined using a battery of 24 anthropometric measurements from which 11 proportion indices were calculated. The data were compared to sex- and age-matched normal standards and converted to standard (Z) scores before being analyzed using Student's t-test. The data indicate a complex pattern of dysmorphology arising from the synostosis which affects the upper face and orbits as well as the cranial vault. The entire fronto-orbito-zygomatic complex is narrowed, and vertex is reduced. There is compensatory sagittal and transverse growth of the posterior neurocranium and compensatory vertical and sagittal growth of the upper face. There are statistically significant differences in the pattern of dysmorphology between patients presenting prior to 6 months of age and those older but no significant differences between sexes. Am J Phys Anthropol 103:341–351, 1997. © 1997 Wiley-Liss, Inc.     

Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.     

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent forehead, downward slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set asymmetric and dysmorphic ears. Karyotype analysis disclosed an extra mosaic ring chromosome, which included the whole 19p arm. Four additional patients with supernumerary ring 19 chromosomes have been reported, but none of them had pure trisomy 19p.     

Dubowitz syndrome: a cholesterol metabolism disorder?

Dubowitz syndrome (DS) (MIM#223370) (4) is a very rare genetic and developmental disorder involving multiple congenital anomalies including: 1) growth failure/short stature; 2) unusual but characteristic facial features; small triangular face, high sloping forehead, ptosis, short palpebral fissures, broad and flat nasal bridge; 3) microcephaly; 4) mild mental retardation; and 5) in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Here we describe a male Turkish patient who has typical and less common findings of DS with additionally persistently low serum lipid levels and an arachnoid cyst. The present patient is the second case of DS with persistently low cholesterol levels.     

Full trisomy 22 in a newborn infant

Karyotype 47,XY,+22 was found in a newborn infant with primitive and low-set ears, bilateral preauricular pit, broad nasal bridge, antimongoloid palpebral fissures, macroglossia, enlarged sublingual glands, cleft palate, micrognathia, clinodactyly of the fifth fingers, hypoplastic finger nails, hypoplastic genitalia, short lower limbs, bilateral sandal gap and deep plantar furrows. The child developed signs of congenital heart disease and died at the age of 10 weeks. Non-disjunction studies showed maternal origin (meiosis I) of the extrachromosome.     

A case with de novo interstitial deletion of chromosome 7q21.1-q22

A case with de novo interstitial deletion of chromosome 7q21.1-q22: A patient with multiple congenital anomalies was found to have a de novo proximal interstitial deletion of chromosome 7q21.1-q22. The patient was 10.5 years of age, and manifestations include growth retardation (below 3rd percentile), mental retardation, mild microcephaly, hypersensitivity to noise, mild spasticity, short palpebral fissures, alternant exotropia, compensated hypermetropic astigmatism, hypotelorism, hypoplastic labia majora and minora, clinodactyly of fingers 4 and 5. Molecular studies revealed that the deletion had a paternal origin, while chromosomes of both parents cytogenetically were shown to be normal. Molecular, and fluorescence in situ hybridization (FISH) analyses confirmed no deletion at the Williams-Beuren Syndrome region. Some of the heterogeneous clinical findings were consistent with previously reported cases of same chromosomal breakpoints.     

Opposite imbalances of distal 14q in two unrelated patients.

Two unrelated children were found to have de novo opposite imbalances for distal 14q. One had a 46,XY, del(14)(q24q32) karyotype and exhibited, like three other patients with similar deletions, a distinctive facial appearance including round face, frontal hypertrichosis, thick eyebrows, horizontal narrow palpebral fissures, a short bulbous nose with a flat root, and mild micrognathia. The other had a 46,XX, dir dup(14)(q22----q32) karyotype and stigmata common to patients with comparable duplications, namely high forehead, sparse eyebrows, prominent overlip, gingival hypertrophy, and overriding fingers. Therefore, it is concluded that each of these imbalances originates a distinct syndrome.     

Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion

BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE: We report a case of PS (type 3) with tracheal and visceral involvement and sacrococcygeal eversion. The patient shows facial dysmorphism with macrocephaly, dolichocephaly, and trigonocephaly, and an asymmetric skull, bilateral and severe exophthalmia with shallow orbits and ocular hypertelorism, downslanting palpebral fissures, constant strabismus, short anterior cranial base, and midface hypoplasia. CONCLUSIONS: Molecular analysis of the FGFR2 gene in this patient revealed a point mutation (c.890G>C NM_000141). This mutation leads to the substitution of the residue tryptophan at position 290 to cysteine in the protein (p.Try290Cys). These data reinforce the hypothesis that the p.Trp290Cys mutation is more often associated with a severe and poor prognosis of PS. Furthermore they suggest that the presence of sacrococcygeal defects is not associated with any specific FGFR2 mutation.     

Strategies for a successful corrective Asian blepharoplasty after previously failed revisions

Asian blepharoplasty, although a common procedure, has a relatively high rate of complications. Subtle imperfections and more serious iatrogenic complications often require immediate attention by the aesthetic surgeon. After attempted correction of the deformities, residual problems or new ones can arise. Blepharoptosis, supratarsal depression, an excessively high or low crease, a short or discontinuous crease, multiple creases, and asymmetric creases are the most commonly encountered complications that require special attention in this group, which has already undergone more than one surgical procedure. Between January of 1996 and December of 2002, 168 Asian blepharoplasty revisions were performed by one surgeon (S. H.-T. Chen); of these, 36 patients (21 percent) had previously undergone failed revisions. This subgroup of patients consisted of six with blepharoptosis, six with asymmetrical eyelid creases, three with supratarsal depressions, three with high creases, two with short creases, and 16 with combinations of these deformities. The results were graded as excellent, good, fair, or poor, based on the symmetry of the eyelids, palpebral fissures, crease heights, lengths, shapes, eyelid fullness, and overall aesthetics of the final outcome. A survey was performed of patient and surgeon satisfaction and factored into the grading system. With an average follow-up period of 16 months (6 to 60 months), 22 patients (61 percent) were found to have excellent results, 10 (28 percent) had good results, two (5.6 percent) had fair results, and two (5.6 percent) had poor results. Corrective procedures after failed revision Asian blepharoplasty require special strategic considerations because of the presence of extensive scarring and inadequate skin, muscle, and preaponeurotic fat and because of the occasional presence of dehiscence of the levator aponeurosis. By using careful preoperative evaluation, accurate measurements, precise preoperative planning, intraoperative fat repositioning or grafting, skin excision or redraping, and proper placement of anchoring sutures, successful outcomes can be achieved. The authors evaluate the outcomes and detail the surgical procedures that were used to achieve successful outcomes in this particularly challenging group of patients.     

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

Two new patients, mosaic for a small supernumerary ring chromosome 7 are described. There are only seven published reported concerning supernumerary ring chromosome 7 and we reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important for genetic counselling and clinical genetics. Our first case was a 20 months old girl who was referred for a mild motor developmental delay, an asymmetric facial appearance, a plagiocephaly and a short nose with anteverted nostrils. Our second case was a 9 years old boy who was referred for a IQ at the lower end of the normal range (? 80), obesity, hyperactivity and some dysmorphic features including hypertelorism and down slanting palpebral fissures. In both cases, chromosome analysis after G and R banding and FISH showed a small ring chromosome 7 in respectively 76% and 50% of consecutively scored metaphases. Both ring chromosomes were labelled by FISH using the Williams Syndrome locus probe (Elastin Gene D7S486). Comparison between these two cases and previously published cases allowed to delineate frequent clinical findings. A mild mental retardation was found in the majority of patients. which is an important data for genetic counselling.     

Anthropometric evaluation of dysmorphology in craniofacial anomalies: Treacher Collins syndrome

Advances in surgical techniques for correction of craniofacial anomalies have necessitated the development of objective pre- and postoperative quantitative assessments. Standard anthropometric techniques, supplemented by additional methods oriented to specific clinical problems, have proved useful in defining surface dysmorphology in craniofacial patients. A series of 77 surface measurements of the head and face and 41 proportions were determined in 20 preoperative patients with Treacher Collins syndrome, a rare congenital defect of the first and second branchial arches. To permit comparison with age- and sex-specific data for healthy North American children, the patient data were converted to standard (Z) scores. To test the hypothesis Z = 0, Student's t-test was performed on all variables. The anthropometric findings verified many of the clinical findings in this syndrome. In addition, a number of previously unreported defects were found. The cranium was low and short with a low, narrow forehead and a narrow cranial base. The face was narrow and shallow, the mandible long and narrow, and the lower face receding. The eye fissures were short with an antimongoloid inclination, but the orbits were hyperteloric. The nasal root was high and wide, the nasofrontal angle open, and the bridge inclination low. The labial fissure was narrow, and the ears were microtic. Except in the nasal root the defects were hypoplastic. Most of these defects were either horizontal or anteroposterior. Recognition of the defective areas and their contribution to disproportions of the head and face is important in the development of surgical strategies.