(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.
Scaphocephaly
Definition:
(n.) A deformed condition of the skull, in which the vault is narrow, elongated, and more or less boat-shaped.
Example Sentences:
(1) We report a 2-year-old Moslem Arab boy with 28 of the 32 originally described features of this syndrome and in addition with hyperelastic joints, hypospadias and scaphocephaly which were not previously described in association with the Kabuki make-up syndrome.
(2) The other congenital deformities included scaphocephaly, somewhat low-set ears, accessory tragi, a high arched palate, and funnel chest.
(3) Coronal craniostenosis seems to be a dominant autosomal character, when scaphocephaly is more often sporadic; for both, an autosomal dominant inheritance is not excluded for some pedigrees.
(4) Eight infants had scaphocephaly with prominent occipital shelving.
(5) Two children from a small Amerindian community presented with profound retardation, initial hypotonia progressing to hypertonia, scaphocephaly, a prominent occiput, poor postnatal head growth, and additional minor anomalies.
(6) Premature fusion of the sagittal and lambdoid suture led to scaphocephaly.
(7) Four illustrative cases of scaphocephaly, all treated with midline linear craniectomy, with uneventful postoperative follow-up periods of more than 4 years, are reported.
(8) We describe two female siblings with similar clinical features consisting of hydrocephalus, scaphocephaly, hypotonia, mongoloid eye slant, blepharophimosis, micrognathia, supernumerary mouth frenula and mental retardation.
(9) 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.
(10) The authors report, concerning 115 cas of scaphocephaly, the clinical (spheno., lepto., bathmo., clino., the kinds without dolichocephaly) radiological characteristics (temporal curve without dolichocephaly), orbito-sphenoidal obliquity regressing after treatment).
(11) Besides, two patients with scaphocephaly and one with plagiocephaly showed low perfusion area in unilateral cerebral hemisphere.
(12) Postoperatively, only 14.5% had minor clinical signs, which were mostly not in relation to the former scaphocephaly.
(13) A series of 50 consecutive patients with scaphocephaly treated by a new operation are reported, and the results are reviewed in detail.
(14) We report the clinical features and neurosurgical management of a 9-month-old girl with cranioectodermal dysplasia and scaphocephaly.
(15) The clinical manifestations of MPS are frequently dwarfism, scaphocephaly, grotesque facial features with snub nose, hypertelorism, macroglossia and dental anomalies.
(16) In addition to the effect on the neurocranium, the extended craniectomies add to normalization of the base of the skull (in contrast to the natural history of scaphocephaly).
(17) A technique for the correction of scaphocephaly is described.
(18) On the cranial deformities, 7 cases of scaphocephaly, 4 cases of oxycephaly and 3 cases of acrocephaly were diagnosed.
(19) To the median sagittal craniectomy, one can add retrocoronal, pre lambdoid or metopic craniectomies according to the type of scaphocephaly.
(20) This article reports a retrospective quantitative (cephalic index) evaluation of the effect that two different operations for treatment of scaphocephaly secondary to sagittal synostosis have on cranial shape.