11/50. Overlap between Majewski and hydrolethalus syndromes: a report of two cases. We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes. ( info) |
| short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated tongue, cleft palate, and hypoplastic epiglottis. Short proximal parts of upper limbs, bilateral postaxial polydactyly of hands, and bifid big toe with zygodactyly were additional findings. Chest was narrow. Ambiguous genitalia was noted but testicles were in scrotum. choroid plexus cyst and coarctation of aorta were found in autopsy. Radiographies of the skull revealed occipital horn accompanied by prominent external occipital protuberance. The thoracic cage was narrow and elongated with short and iliac wings, pubic and ischial rami were were hypoplastic, and both acetabula were shallow and trident shaped. All tubular bones had wide and rounded metaphyses. Because clinical and radiological features of the four established subtypes are very similar, there are difficulties in the classification. We report an infant whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer). ( info) |
| We present a case of short rib (polydactyly) syndrome in which the diagnosis was made prenatally by ultrasound examination. The more specific diagnosis of short rib (polydactyly) syndrome type III was made on the basis of findings on radiographs obtained at birth. The sonographic and radiographic features are discussed. The patient had complete situs inversus and hypospadias. The former was reported in one other case of type III and the later has not been previously reported in this entity. ( info) |
14/50. Short rib polydactyly syndrome-Type I. Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS - Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography. ( info) |
| We present a case of lethal short rib-polydactyly syndrome (SRPS) that cannot be categorized into the existing classification. A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS. ( info) |
16/50. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family. ( info) |
| INTRODUCTION: short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by short limb dwarfism, short ribs with thoracic hypoplasia, polydactyly, and multiple anomalies of major organs. CASE REPORT: We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia, polydactyly and extremely low set ears, depressed nasal bridge, and cleft palate. The family was informed of the fatal outcome of the condition. Delivery was induced, and the baby died just after the birth. DISCUSSION: prenatal diagnosis is established with postmortem radiographic and pathologic examinations. ( info) |
18/50. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with different prenatal sonographic and postnatal clinical, histological and radiologic findings. SRPS type 1 (Saldino-Noonan) and type 3 (Verma-Naumoff) are very similar and frequently get mixed. In this report, we present a case of SRPS with hydrops, thoracic hypoplasia, short limbs and postaxial polydactyly in a 27-week fetus. The visceral findings in the fetus including the central nervous system were normal. The karyotype was 46XY. The prenatal diagnosis was thought to be type 1 because of the absence of fibulae at ultrasonography. However, postmortem autopsy, histologic, and radiologic findings were reviewed and the diagnosis was type 3 SRPS because of absence of visceral anomalies, presence of fan-shaped iliac bones and short tubular bones with metaphyseal widening. We concluded that detailed ultrasonography performed in the prenatal period is very important in the diagnosis and differential diagnosis of SRPS. ( info) |
19/50. Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester. Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with an 18 gauge examination sheath and a single-chip digital camera were used for transabdominal embryofetoscopy. Transabdominal embryofetoscopy was performed at 13 weeks of gestation. Direct visualization of the fetus was achieved and no gross limb or facial abnormalities were seen. This case shows that embryofetoscopy is a useful tool for early diagnosis in high-risk patients in the first trimester for continuing pregnancies. ( info) |
20/50. short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. This case report describes the neuropathological findings in an autopsy case of short rib-polydactyly syndrome (SRPS). The patient was a Japanese female neonate who was born at 35 weeks of gestation and died soon after birth due to severe cardiopulmonary insufficiency. Clinical and radiological findings were most consistent with SRPS type I (Saldino-Noonan type). General autopsy findings included situs inversus, persistent truncus arteriosus and endocardial cushion defect, hypoplastic lungs and adrenal glands, and vaginal atresia. Fixed brain weight was 330 g. Three different categories of pathological changes were detected in the brain. These were as follows: (1) multiple cyst formation in the parenchyma, (2) primary malformations of the nervous and mesenchymal tissues, and (3) deposition of an unusual substance in the cerebral white matter. The multiple cysts or cavities in the parenchyma may be due to severe hypoxic-ischemic insults related to the congenital heart anomaly. The primary malformations were summarized as follows: (1) capillary telangiectasia of the pia mater and choroid plexus, (2) olfactory dysplasia with asymmetry, (3) focal cortical dysplasia in the frontal lobe and cerebellum, (4) olivary dysplasia, and (5) enlargement of the posterior part of the lateral ventricle. Dysplastic changes of the nervous tissue can be classified into the group of neuronal migration disorders. Although biochemical properties of the unknown substance were not determined, it is considered to be some product derived from an inborn error of metabolism. Morphological data of SRPS is still scarce, and pathognomonic changes have not yet been elucidated. The present data suggests that coexistence of the nervous and mesenchymal malformations may be highly characteristic of SRPS. ( info) |