(1) A family in which a gene (MRX2) is segregating for an X-linked syndrome of mental retardation, short stature, microcephaly, brachycephaly, spastic diplegia, small testes and possible intra-uterine growth retardation is described.
(2) A 2-month-old boy with delayed growth and development, brachycephaly, large anterior fontanelle, low-set folded ears, micrognathia, aortic coarctation, floppy abdominal muscles, and pes varus, was found to have a 46,XY,del(16)(q2100q2300) de novo karyotype.
(3) Clinical manifestations include brachycephaly and a flat mid-face; brachydactyly; short, broad hands; mental retardation; and aberrant behaviour, including hyperactivity.
(4) The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures.
(5) Their clinical manifestations included brachycephaly, midface hypoplasia, prognathism, upper lip eversion, short and broad hands with short fingers, clinodactyly of the fifth fingers, fingertip pads, moderate mental retardation, and behavior problems.
(6) Additionally, he had brachycephaly, a high arched palate, hypospadias, a malformed left external ear, and bilateral finger contractures.
(7) The characteristic findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple bony abnormalities in the upper thoracic vertebrae and sometimes in the cervical region, together with a variety of deformities of the upper ribs.
(8) A family is described in which 15 persons in five generations are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature.
(9) Callosa of subjects with Down syndrome were distinctively rounded in form, consistent with Down syndrome brachycephaly.
(10) The best operative period is the first year of life, 2 to 3 months of age for the brachycephalies, and 6 to 9 months of age for the other craniosynostoses.
(11) The effectiveness of the "floating forehead" operation for treating brachycephaly in infants has been assessed.
(12) The three affected males had severe mental retardation (IQ 20 to 30), mutism, growth failure, frequent infections, seizures, and the following minor anomalies: brachycephaly, frontal hair whorl, square face, large mouth, thick lips, and prognathism.
(13) Micromelia and brachycephaly were recognized in affected embryos after 9 days while lethality occurred mainly after 16 days of incubation.
(14) A female child with brachycephaly, hypertelorism, convergent strabismus, interstitial keratitis, analgesia on both sides of the face, absent corneal reflexes, and focal congenital alopecia of a zone of the occipital and posterior parietal scalp is presented.
(15) Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under-development.
(16) Description of a boy aged 20 months presenting growth and mental retardation as well as several minor anomalies : brachycephaly, antimongoloid slant of the palpebral fissures, dystopia canthorum, broad nose, low set ears and short fingers.
(17) They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands.
(18) The common clinical findings were broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, and hoarse, deep voice.
(19) Principle clinical features include: Anatomic - microcephaly; bilateral, convergent strabismus; epicanthus; brachycephaly; bulbar nose; sparse hair; partial soft tissue syndactylism between 2nd and 3rd fingers which are slightly tapered; whorls on all 10 fingers; mild prognathism; solitary kidney; vaginal stenosis; vesicoureteral reflux; asymmetric feet; and subluxation of peroneal tendons around the fibula with severe pronation and heal valgus deformity.
(20) Four of seven cases (57%) with brachycephaly showed low perfusion areas in either of frontal lobes, occipital lobes, and cerebellum.
Congenital
Definition:
(a.) Existing at, or dating from, birth; pertaining to one from birth; born with one; connate; constitutional; natural; as, a congenital deformity. See Connate.
Example Sentences:
(1) The origin of the aorta and pulmonary artery from the right ventricle is a complicated and little studied congenital cardiac malformation.
(2) Cor triatriatum (CT) is a rare congenital defect, surgically correctable, and sometimes difficult to diagnose by cardiac catheterization.
(3) The position of the cyst supports the theory that branchial cysts are congenital in origin.
(4) In addition, congenital anemias such as sickle cell disease can impact on the health of the mother and fetus.
(5) A case of congenital subglottic fibroma is presented.
(6) Congenitally deficient plasmas were used as the substrate for the measurement of procoagulant activities in a one-stage clotting assay.
(7) Attempts to eliminate congenital dislocation of the hip by detecting it early have not been completely successful.
(8) Instead of later renal failure and, of course, mental retardation, it was the histological features of the fetus eyes which permit to diagnose and exhibit both congenital cataract and irido-corneal angle dysgenesis.
(9) In the interim, sonographic studies during pregnancy in women at risk for AIDS may be helpful in identifying fetal intrauterine growth retardation and may help raise our level of suspicion for congenital AIDS.
(10) After early repair of congenital cardiovascular defects, such as coarctation of the aorta, late stenosis may become a problem.
(11) This study examines the morphology of sporadic congenital microphthalmia in 1-day-old chicks, with particular emphasis on the neural retina.
(12) It is usually associated with a left superior caval vein draining into the coronary sinus and is frequently part of a complex congenital malformation of the heart.
(13) Aplasia of the trachea associated with multiple congenital anomalies is described in a stillborn male foetus with single umbilical artery.
(14) Neuromuscular disorders in small animals include a diverse group of congenital and acquired diseases.
(15) Urologic evaluation of all patients with congenital scoliosis is recommended; however, diagnostic ultrasonographic evaluations of the urinary tract have proven to be an acceptable alternative as an initial screening modality.
(16) These examinations are used in the evaluation of congenital heart disease for preoperative planning and postoperative evaluation.
(17) Further management of the congenital cases was based on the experience that children outgrow this disorder; periodic dilatation may augment the natural process.
(18) Congenital defect of a cervical pedicle produces a rare clinical syndrome with a characteristic X-ray picture associated with vague clinical signs often accentuated after trauma.
(19) We document four patients, including two sibs, with asphyxiating thoracic dystrophy and mild congenital hydrocephalus.
(20) A case of mixed congenital abnormalities in a fetus demonstrated ultrasonographically during the second trimester of pregnancy in an uncontrolled insulin-dependent diabetic mother is presented.