Skull Malformations Research Articles

Three-dimensional ultrasound in the evaluation of fetal head and spine anomalies

To test the application of three-dimensional (3-D) ultrasound for the antenatal diagnosis of fetal head and spinal anomalies. Twenty-five fetuses with head or spinal anomalies and ranging in gestational age from 16 to 33 weeks were studied prospectively: 11 with a control nervous system anomaly (neural tube defect [n = 4], encephalocele [n = 2], hydrocephalus [n = 4], and anencephaly [n = 1]), 13 fetuses with a family history or suspicion of cleft lip or palate, and one with a cloverleaf skull malformation. A volume scan was performed after the two-dimensional examination was complete. The mechanical transducer scans up to 40 degrees in less than 4 seconds, acquiring the data for a pyramid-shaped tissue volume. Three matched and dynamically linked images representing the X, Y, and Z planes are displayed simultaneously. When one image is manipulated, the remaining images are updated automatically to maintain a 90 degrees difference. After the ideal three orthogonal planes are identified, a 3-D image can be reconstructed. A variable number of scan images are possible, depending on the volume size and the data acquisition time. Processing time for the reconstruction depends on volume size, the number of scan images included, and the degrees of rotation of the final image. The three orthogonal planes proved most helpful delineating the exact nature and anatomic level of the defect. No examination was delayed or required repetition because of suboptimal fetal positioning. The enhanced confidence achieved by our being able to delineate the precise anatomic level and extent of the defect improved patient counseling. The 3-D reconstructions clarified and documented the true magnitude of the defects and on occasion allowed a diagnosis not possible by either two-dimensional or nonreconstructed 3-D imaging. Our experience with 3-D ultrasound suggests that it is an advance in high-quality ultrasound. Its greatest advantage is that it allows the user to view simultaneously the three orthogonal planes.

Crouzon Twins with Cloverleaf Skull Malformations

We describe unique monozygotic twins with Crouzon's disease and cloverleaf-shaped skull deformities who have been closely followed since birth. Their abnormal skull shapes were identified during antenatal ultrasound examination. The twins had gross exophthalmos and hydrocephalus with papilledema, so early calvarial decompression surgery was required. Although born to healthy parents of normal appearance, a third cousin of the twins had a milder form of Crouzon's disease, and there was a family history of high-arched palate on the twins' paternal side. Because Crouzon's disease is an uncommon condition and the cloverleaf skull shape is unusual in patients with Crouzon's disease, identical twins with this constellation of deformities must be exceptionally rare.

Commentary on Crouzon Twins with Cloverleaf Skull Malformations

Commentary on Crouzon Twins with Cloverleaf Skull Malformations

Discussion of Crouzon Twins with Cloverleaf Skull Malformations

Discussion of Crouzon Twins with Cloverleaf Skull Malformations

Is Exencephaly the Forerunner of Anencephaly?

Exencephaly is said to precede anencephaly resulting from failure of the rostral neuropore closure. In order to verify if the exencephaly induced after neural tube closure would also lead to anencephaly, exencephaly was induced in rat fetuses by maternal administration of a single dose (15 mg/kg) of cyclophosphamide on day 12 of gestation and pregnancy was prolonged by uterine ligation until postconception (PC) day 24. Fetal death was found to increase with prolongation of gestation and no sign of recovery from growth retardation was observed. Alizarin red-S-stained skeletal preparations substantiated the persistence of skull malformations in the exencephalic fetuses. Histological observations of the mesenchyme and the brain indicated degenerative changes that were intensifying with time. The ventricular system expanded progressively; the ependyma was denuded and neural mass lay free in the ventricle. The choroid plexus appeared to be elaborate and extensive. The haemorrhagic capillary network around the brain tissue was highly proliferative and appeared to penetrate the former from the exterior. Tissue necrosis seemed to progress unabated. Cystic spaces appeared beneath the base of the brain and became progressively large and it appeared as if the brain was being pushed out of the shallow cranial fossae. By PC day 24, most of the brain tissue had degenerated, thus giving clearly the appearance of the anencephalic condition.

Das Catel-Manzke-Syndrom

The leading symptom of Catel-Manzke syndrome is a characteristic deviation of index fingers. Further the patients suffer from symptoms of Pierre-Robin syndrome (micrognathia, glossoptosis, cleft palate). The survival of patients, mostly male, depends on the severeness of congenital malformation of the face skull. The rare disease is demonstrated and discussed by two own cases.

Congenital Malformations of Cervical Vertebrae, Brain, Skull, Eyes and Forelegs in a Tetraparetic Foal

Congenital Malformations of Cervical Vertebrae, Brain, Skull, Eyes and Forelegs in a Tetraparetic Foal

Ｇｏｌｄｅｎｈａｒ′ｓ ｓｙｎｄｒｏｍｅと思われる先天性側わん症の治療経験

Goldenhar's syndrome (oculo-auriculo-vertebral dysplasia) is a rare congenital malformation and consists of epibulbar dermoids and anomalies of the external ear and vertebra.We report a 4 years old girl with Goldenhar's syndrome who has congenital malformation of skull, ear, hart, vertebra and facial nerve palsy.She was treated with excision of a hemivertebra with non-incarcerated type because her thoracolumbar courve increased from 38° to 57° during two years.Ten days after the operation, a corrective under arm cast was applied.Good correction has been obtained with the procedure.

Skull malformation and cerebellar herniation in captive African lions.

Thickening of the cranial vault with a resulting cerebellar herniation is described in a series of litters of lion cubs, all with the same parents, one of whom was also very mildly affected. This animal, when mated to his daughter, also produced affected cubs. The aetiology of the condition is discussed and it is considered that vitamin A deficiency may have been less important than has been suggested by other authors.

Primary Pituitary Dysgenesis

A year ago the authors observed a newborn boy with no anterior pituitary; other skull or brain malformations were absent. Findings included maternal estriol insufficiency of nine days' duration, early repeated attacks of hypoglycemia and respiratory distress, a small sella turcica with a persistent cranio-pharyngeal canal, hypothyroidism, and ectopic testes. No electrolyte disorder was present. Death occurred at the age of 27 days. An elder female sibling is in good health. A 2-week-old brother is alive but shows the same symptoms as his deceased brother before death.

Congenital cataract in the rat.

A strain of Sprague-Dawley rats in which congenital cataracts are associated with skull malformations has been studied. The lens changes are nonprogressive and are found in newborn animals. Inheritance is by a fully-expressed simple autosomal recessive gene. Histopathologic study revealed a distinctive over production of the lens capsule and proliferation of lens epithelium which is a unique finding in animals and resembles changes seen in some human syndromes associated with congenital cataract.

CRANIOFACIAL DYSOSTOSIS OF CROUZON

THIS REPORT describes an infant with craniofacial dysostosis noted at birth. As in the original description by Crouzon, the infant demonstrated a bony-hard protrusion of the skull in the region of the anterior fontanelle, with widening of the transverse diameter and anteroposterior shortening. In addition, the presence of relative prognathism and exophthalmos with divergent strabismus completed the classic picture. Crouzon's first description of the syndrome was reported in 1912 in a woman and her son. Three years later he described a family in which 7 of 21 members were affected. That paper stressed the hereditary aspects of the syndrome. Since then few papers have been concerned with heredity. Atkinson collected 86 cases of the malformation, in which 56 patients had positive family histories. Fogh-Anderson suggested the pattern of simple dominance, when he described an affected mother who had affected children in two different marriages. One of hen pregnancies produced dizygotic twins, only one of whom was affected. Flippen reported a family in which 10 of 21 progeny in four generations were affected. He concluded that this represents the expression of ". . . an heterozygous, dominant trait." Extensive investigation of the family history of the patient reported herein revealed the data which comprise the body of this report. CASE REPORT Clinical History The patient was born at home and transferred immediately to Norwalk Hospital. At the time of admission he weighed 3,360 gm. Physical examination revealed a well-developed infant, normal except for the head which is better illustrated than described (Fig. 1). The skull malformation was bony-hard to palpation except for the anterior fontanelle, which measured less than 1 by 1 cm. All suture lines were closed. The posterior fontanelle was not palpable. Hypertelorism and exophthalmos were present. Bilateral divergent strabismus was observed intermittently. The optic fundi appeared normal. Roentgenograms of the skull showed premature closure of all sutures. A small segment of the anterior fontanelle was open. The remainder of the protuberance in the midline anteriorly was supported by plates of bone (Fig. 2). The infant sucked and swallowed well and had normal motor activity. Reflexes were normal. Two craniectomies were performed uneventfully for excision of bone in the area of the coronal sutures. He was discharged home at the age of 4 months with minimal noticeable change in skull shape.