(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.
Plagiocephaly
Definition:
(n.) Oblique lateral deformity of the skull.
Example Sentences:
(1) Authors report a ring chromosome 18 (18 r) in a four year old boy, with low birth weight, retarded growth and development, microcephaly and plagiocephaly, horizontal nystagmus, ambiguous genitalia, clinodactyly of the fifth finger, distal axial triradius, whorls pattern in 8 fingers in dermatoglyphic.
(2) Both the safety and efficacy of the treatment of isolated craniofacial dysostosis (plagiocephaly) in infancy have been demonstrated.
(3) Torticollis was an associated finding in 64 percent of infants with deformational frontal plagiocephaly; almost all were ipsilateral.
(4) Congenital muscular torticollis usually requires surgical release of the sternocleidomastoid muscle to achieve a good cosmetic result and to prevent plagiocephaly, facial asymmetry, and scoliosis.
(5) Female preponderance was noted in both synostotic (79 percent) and deformational (76 percent) frontal plagiocephaly.
(6) Premature pelvic descent, in the left occipital anterior position, may account for the high incidence of left-sided deformational plagiocephaly and ipsilateral torticollis.
(7) Plagiocephaly is commonly attributed to the synostosis of a single coronal suture.
(8) An unusual association of Klippel-Feil syndrome and other abnormalities (Sprengel's deformity, 1st cervical and 1st dorsal spina bifida, homovertebral bone, scoliosis, plagiocephaly, basilar impression, pterygium colli, nanism, hypogenitalism, etc.)
(9) Cranial anomalies that are discussed include plagiocephaly, bregmatic fontanelle bones, Wormian bones, cranial trauma, and heterotopic bones.
(10) Based on these findings, it would seem pertinent to consider early surgical release of the sutures of the calvaria and cranial base in plagiocephaly to prevent asymmetric facial development.
(11) Strabismus, ptosis, lateral canthal dystopia, nasolacrimal obstruction, and cranial nerve palsy were noted preoperatively in 32%, 21%, 14%, 12%, and 9% of 34 patients, respectively, undergoing ophthalmologic evaluation prior to unilateral orbital advancement for plagiocephaly.
(12) The deformations (n = 7) included plagiocephaly (n = 5), hemifacial hypoplasia (n = 1), and micrognathia (n = 1).
(13) Plagiocephaly is a term commonly used to describe congenital forehead asymmetry.
(14) In 1960 Adolph Schultz described several cases of plagiocephaly in a collection of mantled howler monkeys (Alouatta palliata) from the forests of Central America.
(15) In type II anterior plagiocephaly, the frontal and orbital anomalies are accompanied by contralateral deviation of the nasal pyramid and homolateral anterior displacement of the petrous bone.
(16) The plagiocephaly index, an index that reflects an underlying anatomic asymmetry of the brain, was assessed in ten schizophrenic patients and its values were correlated with the lateral distribution of quantitatively evaluated EEG.
(17) The patient, a six-year-old boy, had, in addition, multiple associated congenital anomalies that included Sprengel deformity, omovertebral bone, scoliosis, hypoplasia of the right thumb, plagiocephaly, choanal atresia, and Diamond-Blackfan anemia.
(18) Categorization of frontal plagiocephaly as synostotic or deformational was reliably made by physical examination, focusing on the supraorbital rims, nasal root, ears, and malar eminences.
(19) Finally, the authors certify the frequency and the seriousness of ocular repercussion, even in so called benign types of cranio-stenoses, such as plagiocephaly, trigonocephaly, and scaphocephaly.
(20) Three plagiocephalies, two trigonocephalies have thus been treated, as well as 5 facio-craniostenosis for whom a 2 cm forehead advancement has been done, the following results being very encouraging.