Amniotic band sequence: Streeter hypothesis revisited.
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Abdominal Muscles↗
Biomedical subjects
J S Bamforth
Publications and source records attributed to J S Bamforth.
Amniotic band sequence: Streeter's hypothesis reexamined.
Recently published reports of 54 subjects with the amniotic band syndrome (ABS) were reviewed, paying particular attention to internal anomalies. Evidence from the internal anomalies suggests that in most cases reviewed, damage occurred in a definable time period, probably prior to 26 days postconception and before the establishment of effective embryonic circulation. Most defects are explicable in terms of interference with neuropore closure, malmigration of cephalic neural crest tissue, and damage to the mesonephros consistent with local interference of the graded expression of organizational genes resulting in a local defect in the organization of the embryo.
Amniotic Band Syndrome↗
Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.
We describe a 3-generation family with lacrimo-auriculo-dento-digital syndrome (LADD). In addition to the well described abnormalities of ears, teeth, lacrimal apparatus and digits, the patients exhibit several previously undescribed anomalies, including minor facial anomalies (broad forehead, telecanthus, bulbous nasal tip, full jaw, ptosis and flared nostrils), involvement of the first and second toes, and congenital renal disease causing death in the neonatal period in 2 cases.
Abnormalities, Multiple↗
Poland anomaly with a limb body wall disruption defect: case report and review.
We describe a female infant with apparent Poland anomaly (PA) and limb body wall defect. Analysis of the defects suggest that a disruption of the lateral embryonic plate mesoderm may have been responsible for the observed lesions. Because of the overlap of this case with PA, we re-examined previous reports of this syndrome. We think that the lesions could be equally well explained as a mesodermal disruption, and point out a previously unrecognised discrepancy between sex and affected side in sporadic PA and inherited PA which supports this view.
Diaphragmatic Eventration↗
Trembling chin--a report of this inheritable dominant character in a four-generation Canadian family.
Trembling chin is an unusual, benign, dominant trait. We describe the condition in a four-generation Canadian family. Investigations, which included E.E.G., electromyograph and facial nerve conductance studies on affected and unaffected individuals, were normal. Premature hearing loss, present in all affected members of this family over age 50, strongly suggests an association of trembling chin with otosclerosis. The merits of early diagnosis and preventive treatment for otosclerosis in persons affected by trembling chin are discussed.
Canada↗
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.
We describe five patients with Fryns syndrome. Four presented with diaphragmatic hernia and died in the neonatal period. One did not have diaphragmatic involvement and survived but is severely mentally retarded. All patients had "coarse" faces, microretrognathia, macrostomia, and distal digital hypoplasia. In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad clavicles, Hirschsprung "disease," and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance.
Abnormalities, Multiple↗
Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma.
We studied the structure and number of lymph vessels in 12 spontaneously aborted previable fetuses with posterior cervical cystic hygroma and generalized edema of variable origin (monosomy X, trisomy 21, trisomy 13, suspected Noonan syndrome, and lethal multiple pterygium syndrome) and compared them to 5 therapeutically aborted, apparently normal fetuses. We found that in the non-45,X fetuses with cystic hygroma and edema the lymphatic vessels at all studied sites were dilated and appeared increased in number. The 45,X fetuses had no recognizable lymphatic vessels in the edematous cutaneous tissue of the limbs, and only occasional dilated vessels in the wall of the nuchal cystic hygroma and in the lungs. These findings may be useful in differentiating between monosomy X and other conditions causing nuchal cystic hygroma in specimens in which the fetus was incomplete and/or cytogenetic study could not be done.
Aorta↗
Congenital shortness of the costocoracoid ligament.
We report a large kindred in which individuals presented with fixation of the scapula to the first rib by a congenitally short costocoracoid ligament. Cosmetic deformity with rounding of the shoulder and loss of the anterior clavicular contour was the main concern of the affected individuals. Movements requiring rotation or retraction of the scapula were limited, although this did not interfere with normal activities. Surgical treatment consists of excision of the costocoracoid ligament and resulted in some correction of the cosmetic deformity. The pedigree supports an autosomal dominant mode of inheritance with variable expression. The abnormality results in a pectoral girdle which is reminiscent of that seen in the monotremes.
Adult↗
Congenital hypothyroidism, spiky hair, and cleft palate.
Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.
Child, Preschool↗
Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature.
We describe 2 patients with unilateral facial and cerebral malformations consistent with encephalocraniocutaneous lipomatosis. The characteristic facial appearance seems to develop with age, possibly as a consequence of increased intracranial pressure. However, the clinical data suggest that this condition arises as a result of a disruption of cephalic neural crest and anterior neural tube.
Adolescent↗
Localisation of the gene for Hunter syndrome on the long arm of X chromosome.
The localisation of the gene for Hunter syndrome (MPS II) has been studied in 11 families using 12 polymorphic DNA markers, one on the short arm and the remaining 11 located at various points on the long arm of the X chromosome. Lod scores for seven probes were uniformly negative for all values of theta; positive scores at values of theta = 0.10 or more were obtained for the five probes located most distally on the long arm (52A, F9C, DX13, St14-1, F8C). Current data suggest the most likely order of the loci to be: 52A, F9C, Hunter, DX13, St14-1, F8C-qter; the Hunter locus may thus be close to that for the fragile site at Xq27.
Chromosome Banding↗
Congenital anomalies associated with hypothyroidism.
Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities.
Abnormalities, Multiple↗
Costectomy as the first stage of surgery for scoliosis.
Preliminary costectomy before Harrington instrumentation and fusion for idiopathic scoliosis allows direct excision of the rib prominence and better correction at the second-stage operation. The excised rib fragments are used as grafts, thus avoiding the need for a separate pelvic incision. The management regime and the technique of costectomy are described. The results in 42 children, most suffering from adolescent idiopathic scoliosis and all treated by this method, have been reviewed. Respiratory function in a group of these children has been compared with that of a group treated by Harrington instrumentation alone. Costectomy produced a significantly greater reduction in total lung capacity and peak expiratory flow rate but, providing the preliminary lung function tests were reasonably normal, the cosmetic and psychological effects of costectomy were very rewarding.
Adolescent↗
Are abnormalities of human organizational genes responsible for causing birth defects?
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Chromosome Aberrations↗