Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In four previously reported patients with partial 3q trisomy, only a small portion of 3q was trisomic (3q21 leads to qter or 3q25 leads to qter). Clinical features in these cases have included the following: low-set ears, mongoloid slant of eyes, hypertelorism, cleft palate, webbed neck, simian creases, short finger, clinodactyly, hypotonia, and low-set hairline. Cytogenetic studies of a premature, 1,680-g female infant with with these clinical features showed this extra material to be part of the long arm of chromosome 3 (3q12 leads qter), which resulted in partial trisomy for this segment, ie, 46,XX,-18, +t (3;18) (q12;p11). Although a larger portion of 3q was involved in this case, the clinical picture was similar to other cases of 3q duplication with or without 3p deletion.
 ...
PMID:Partial trisomy of chromosome 3 (3q12 leads to qter) owing to 3q/18p translocation. A trisomy 3q syndrome. 49 88

A female premature infant with dwarfism, peculiar facial features, cleft palate and bone anomalies including bowing of the lower extremities with pretibial skin dimpling, the so called "campomelic syndrome" is presented. Other symptoms were hypotonia and respiratory distress. The radiological and autopsy findings in this child are described. The lack of known teratogenic factors during the pregnancy and the available data about the familial occurance of this malformation syndrome suggest the possibility of an autosomal recessive mode of inheritance in this patient. This is the first case of campomelic syndrome reported from Iran.
 ...
PMID:[Campomelic syndrome (author's transl)]. 72 80

3 cases of the 18q- syndrome, 2 boys and 1 girl, are presented, and a comparison with data from the literature is given. The following features are typical of the syndrome: short stature, mental retardation, muscular hypotonia, a peculiar dysmorphia of the face and ears, cryptorchidism and small scrotum in males, proximally implanted thumbs, tapering fingers, excess of whorls on the fingertips, and dorsally implanted second toes. Midface hypoplasia with hypertelorism and cleft palate, as well as strabismus, were present in 2 of our patients, whereas all 3 showed nystagmus and prominence of anthelix and antitragus. In addition, 2 patients exhibited narrow ear canals and impaired hearing. One patient had coloboma of the iris and choroid, pale optic discs, and cleft lip; another had umbilical and inguinal hernias. Two cases represented de novo deletions of the long arm of chromosomes 18, whereas the karyotype of the father of third case revealed a balanced translocation t(15;18)(q24;q21).
 ...
PMID:Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases. 111

We report an infant with characteristics of Smith-Lemli-Opitz syndrome who had anteverted nostrils, apparently low-set ears, micrognathia, high-arched palate, cleft palate, growth and psychomotor retardation, hypotonia, poor suck, cerebral hypotrophy and double renal pelvis and ureter. An EEG showed spike waves in the right temporal area. The patient appeared to have normal internal and external genitalia of the female type. Both ovaries were dysplastic. The karyotype was 46,XY. All of 26 loci on the Y chromosome were positive including SRY, a candidate gene for TDF.
 ...
PMID:Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization. 139 79

A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described. Physical manifestations included failure to thrive, hypotonia, pre-auricular sinus, low set ears, hypertelorism, posterior low hair line, micrognathia, cleft palate, congenital heart disease, imperforated anus with anovulvar fistula, contracted pelvis and bilateral rocker-bottom feet. The infant died at two months of age. Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term. A review of the literature is presented to delineate this chromosome disorder.
 ...
PMID:Liveborn trisomy 22: report of one case. 151 17

The craniofacial characteristics of two syndromes commonly associated with Robin sequence were compared for 49 subjects. Lateral cephalograms were analyzed for four groupings: Group I--Stickler syndrome with versus without Robin, Group II--velocardiofacial (VCF) syndrome with versus without Robin, Group III--Stickler without Robin compared to VCF without Robin, and Group IV--Stickler with Robin compared to VCF with Robin. Thirty-two skeletal and 18 soft tissue measurements were compared. In Group I, three skeletal measurements were significantly different (SNA, SNB, and SNPg). In Group II, no significant difference was found for any of the 50 measurements. In Group III, a significant difference was demonstrated for seven parameters (one skeletal, six pharyngeal and airway). In Group IV, two skeletal and eight airway measures were significantly different. The findings indicate that the relative maxillary and mandibular retrognathia observed in Stickler/Robin patients may predispose them to the Robin sequence and vice versa; the Robin features in VCF may be caused by hypotonia rather than any craniofacial or physical obstruction of the airway; Stickler and VCF are similar in craniofacial morphology but show marked differences in pharyngeal and airway morphology; and cephalometrics should not be the sole prognosticator of the Robin sequence and its association with Stickler and VCF.
Cleft Palate Craniofac J 1992 May
PMID:Comparison of the craniofacial characteristics of two syndromes associated with the Pierre Robin sequence. 159 Dec 53

We report a malformed infant with a de novo interstitial deletion of 4q. This is the second patient reported with del(4) (q25q27). Although there are several common features such as marked hypotonia, cardiac abnormalities, cleft palate, and micrognathia noted in our case and that of Chudley et al. (1988), we conclude from our comparison of the seven previously reported cases involving deletions of bands 4(q25q27) that a specific phenotype cannot yet be described for this deletion.
 ...
PMID:Second case report of del(4) (q25q27) and review of the literature. 186 94

A minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low-set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair. All children of known or presumed carriers have been either balanced or unbalanced carriers of this translocation.
 ...
PMID:A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases. 201 19

At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present knowledge is largely based on propositi. It is an X-linked, incompletely recessive, complexly pleiotropic syndrome with considerably variable expressivity. Though a true multiple congenital anomalies/mental retardation (MCA/MR) syndrome, severe malformations are uncommon and involve mostly the anus (60%) and non-colonic GI defects (33%), hypospadias (25%), cleft palate (6%), rarely a congenital heart defect. The complex CNS dysfunctions of congenital hypotonia and all of its sequelae, MR, and occasional seizures, must be attributed to a developmental CNS defect which is rarely demonstrated at pre-mortem, and which is known to involve agenesis of the corpus callosum in some 25% of appropriately studied patients (mostly propositi). Thus, the diagnosis is largely made on a specific constellation of minor anomalies and mild malformations in a hypotonic boy with severe constipation and a very characteristic facial appearance and behavioral phenotype. In about 1/3 of cases, carrier manifestations may be detected physically. New hemizygote manifestations seen in this review of 5 new patients include abnormal eruption of teeth, diastasis between upper central incisors, apparent gynecomastia, cleft lip, and nasolacrimal and helicine fistulae. Only a half hundred or so FG syndrome patients are known, but we suspect the syndrome is much more common than realized, and because of the unfortunate recurrence risk potential, deserves careful consideration in every appropriate case. RFLP mapping studies are urged in order to aid diagnosis of "mild" cases, and prenatal and carrier detection.
 ...
PMID:FG syndrome update 1988: note of 5 new patients and bibliography. 305 62

We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32----qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31----qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.
 ...
PMID:Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes. 306 75


1 2 3 4 5 6 7 8 9 Next >>