1/8. Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype?We report a case of a dizygotic twin with complex abnormalities of head, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/8. Roberts-SC phocomelia syndrome.A severely growth retarded baby was born at 38 weeks gestation. He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. He died of recurrent apneas. The autopsy showed left sided multicystic dysplastic kidney and absence of one testis. Cytogenetic studies did not reveal any abnormality. The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these patients have chromosomal defects and antenatal detection is possible on ultrasound and by chromosome analysis of the amniocytes.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
3/8. Roberts syndrome, normal cell division, and normal intelligence.Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. No case has been reported who had normal intelligence and normal cell division with typical clinical features of the RS. We report a case of a six-year-old male of clinical and radiologic findings of typical RS with normal cell division and normal intelligence.Although he showed growth retardation, his intelligence was normal. Van Den Berg and Francke later reported that 79 out of 100 cases of Roberts syndrome had premature cell separation (PCS). We think that this case may demonstrate severe expression of the Roberts syndrome even though PCS is not exhibited. The limb involvement of this case was symmetrical, and he showed phocomelia of upper limbs, equinus valgus deformity of ankle, aplasia of fibula, and shortness of fifth toes while his hands and feet were normal with 5 rays each. craniofacial abnormalities of this case were typical; he showed scaphocephaly, mild hypertelorism, mandibular hypoplasia, dysplastic helix of ear, narrowing of external auditory canal, and cleft palate with wide gap.This report supports the theory that normal intelligence can make social-personal adjustment possible even if all of the stigmata of Roberts syndrome is present.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
4/8. Roberts syndrome with normal cell division.Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation, and mental retardation. patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell-division cycle. We report an infant whose clinical and radiologic findings resemble those of RS but who lacks the cytogenetic and cell division abnormalities reported in RS. This patient may represent a variant of RS or a new syndrome.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
5/8. Cytogenetic findings in Roberts-SC phocomelia syndrome(s).Roberts syndrome and SC phocomelia syndrome are an autosomal recessive condition of prenatal and postnatal growth retardation, symmetrical limb reduction, and craniofacial abnormalities. A distinction has been made between the two syndromes on the basis of relative severity of these manifestations. Where chromosome studies have been carried out, most have been reported as normal. However, there have been two reports of consistent centromere abnormalities; one in a patient with SC phocomelia (pseudothalidomide syndrome), the other in a patient with Roberts syndrome. Four patients with similar phenotypic manifestations have recently been shown in our laboratory to have the same centromere puffing and splitting. These four patients had other clinical manifestations in common, including bilateral corneal opacities, microcephaly, absence of radii, limited extension at knees and elbows, apparent enlargement of the phallus, and survival beyond the neonatal period.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
6/8. Popliteal pterygium associated with complete amelia of upper limb: early surgical treatment.We report a 5-year clinical follow-up and the operative details of a patient who was born with popliteal pterygium and ipsilateral upper amelia. There were no craniofacial, genitourinary, or other extremity abnormalities, other than severe pes equinovarus. At age 3 weeks, excision of the pterygium and partial release of the hind foot had accomplished a significant but incomplete release of the knee contracture. At age 11 months, a second release of the pterygium, combined with complete reconstruction of the foot, accomplished a straight limb. Presently at the age of 5, the boy has 40 degrees limitation to full extension at the knee but walks, runs, and behaves like all the other children in the nursery school. This combination of congenital malformations and early surgical intervention has never been described in the orthopedic literature.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
7/8. Roberts-SC phocomelia syndrome: a case with additional anomalies.Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder with symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation and mental retardation. patients with RS were reported to have premature separation of heterochromatin of many chromosomes. We report an infant whose clinical, radiologic and chromosomal findings resemble those of RS, with rudimentary gallbladder and accessory spleen. This patient may represent a variant of RS.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |
8/8. prenatal diagnosis of pseudothalidomide syndrome in consecutive pregnancies of a consanguineous couple.Pseudothalidomide syndrome is a rare autosomal recessive condition characterized by tetraphocomelia, craniofacial abnormalities and postnatal growth restriction. We report the prenatal sonographic findings of pseudothalidomide syndrome in three consecutive pregnancies of a consanguineous couple. In the last pregnancy, the correct diagnosis was made sonographically at 11 weeks of pregnancy. The combination of transabdominal and transvaginal ultrasound examinations revealed a large cystic hygroma extending over the lower back. The lower extremities were markedly shortened with no identifiable bones below the level of the femora. The humeri on both sides were shortened; ulnae were small with no identifiable radii. The pregnancy was terminated by dilatation and curettage and diagnosis confirmed at 12 weeks of pregnancy. In conclusion, fetuses with pseudothalidomide syndrome may exhibit characteristic findings in the first trimester of pregnancy which can be detected using ultrasound.- - - - - - - - - - ranking = 0.25keywords = craniofacial (Clic here for more details about this article) |