Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum

We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. The baby had, in addition, agenesis of the corpus callosum. This feature has not been reported in either of these syndromes. It is possible that this baby has a previously undescribed syndrome.     

Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome

We describe three affected sibs with Raine syndrome born to a consanguineous Turkish couple. Clinical findings and post-mortem assessment are presented. We have added previously unreported meso and severe telebrachyphalangy and urogenital anomalies to the clinical spectrum. Appositional new bone formation may be mistaken for fractures and callus formation--both prenatally by ultrasound and postnatally in radiographs. Further research is required to detect the underlying metabolic and molecular defects of this autosomal recessive syndrome.     

Raine dysplasia: a Brazilian case with a mild radiological involvement

We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.     

Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features

We report three children from two inbred Arab families with Stüve-Wiedemann syndrome who have survived the first year of life (ages are 6 years, 2.8 years and 2 years). All exhibited a characteristic phenotype resembling that described by Chen et al.[(2001). Am J Med Genet 101:240-245]. In all three children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. Neurological symptoms were present in all of them. These included temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes and a smooth tongue. Mentality was normal in all of them. Radiological changes included under tubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads and spinal deformity. We confirm that survival in this syndrome is possible and that the prognosis improves after the first year of life. This should be taken into consideration when counselling parents of affected children. This report further supports the existence of a characteristic phenotype in Stüve-Wiedemann syndrome survivors which include, in addition to the skeletal abnormalities and distinctive radiological features, neurological symptoms reminiscent of dysautonomia.     

Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas

OBJECTIVE: Bowing of the long bones can be easily detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, each denoting a different prognosis. Among these conditions, three well-differentiated bone dysplasias share bowed long bones as a main clinical manifestation. Campomelic dysplasia and Stüve-Wiedemann syndrome are characterized by a poor prognosis. Conversely, the overall prognosis of children affected with kyphomelic dysplasia is good, the intelligence and motor development are normal and the radiological abnormalities tend to improve and regress with age. CASE REPORT: We report a case of prenatal detection of short and bowed femora at the 22nd week of gestation. Careful US examination as well as in utero X-ray of the skeleton allowed the exclusion of campomelic dysplasia. In the absence of an unambiguous diagnosis, the pregnancy was continued. At birth, the child presented with clinical and radiological features consistent with a diagnosis of kyphomelic dysplasia. CONCLUSION: This case illustrates the difficulties in making an accurate diagnosis and consequently giving a prognosis when isolated femoral bowing is found on fetal ultrasound examination.     

Bruck syndrome: second antenatal diagnosis

Bruck syndrome is characterized by the association of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder associated with normal collagen I. The main features are osteoporosis, long bone bowing and scoliosis due to vertebral deformities and congenital joint contractures. We describe a French girl who was born with ankle and wrist contractures (second antenatal discovery).     

Paget's disease of the tibia.

Paget's disease of the bone is perceived to be rare in Asia. We report the first documented case of Paget's disease of the bones in Taiwan. A 66-year-old native Taiwanese woman was admitted to hospital with a 10-year history of pain and a bowing deformity of her left leg. Laboratory data disclosed elevated serum calcium and alkaline phosphatase levels, but no leukocytosis. A plain X-ray film of the left leg showed a curved tibia with thickening of the tibial cortex, while a technetium 99m bone scan revealed abnormal uptake in the left tibia. Elevated serum levels of bone-specific alkaline phosphatase and urinary collagen N-telopeptide were also noted. Histologic examination of a biopsy specimen of the left tibia lesion confirmed the diagnosis of Paget's disease in the bone. The patient received treatment with sodium chlodronate, and the symptoms improved rapidly. Laboratory data then revealed decreased levels of serum calcium, bone-specific alkaline phosphatase, and urinary collagen N-telopeptide after treatment.     

Sporadic congenital infantile cortical hyperostosis (Caffey's disease)

Prognosis of congenital infantile cortical hyperostosis (Caffey's disease) is poor particularly in premature babies. Two cases are presented of congenital Caffey's disease in premature babies. The first baby was hydropic at birth and had cortical hyperostosis involving the mandible and long bones of right upper limb and both lower limbs. The second baby had cortical hyperostosis of the nasal bones causing severe nasal nonchoanal stenosis that needed surgery, in addition to involvement of long bones of the four extremities. Both babies recovered from the disease and were discharged home well. These cases suggest that the improved outcome of congenital of infantile cortical hyperostosis may reflect improvement of neonatal mechanical ventilation and availability of neonatal total parenteral nutrition.     

Idiopathic multicentric osteolysis with nephropathy.

Idiopathic multicentric osteolysis is a rare syndrome that manifests with progressive loss of carpal and tarsal bones in childhood. Affected children have arthritic-like episodes, followed by progressive deformities, radiographic osteolytic changes, and variable degrees of disability. A rare form of this disease (type III, sporadic) is associated with serious nephropathy. We present the first reported case of type III idiopathic multicentric osteolysis in a Chinese woman. The patient, a 34-year-old woman with normal mental development and no family history of bone or kidney disease, presented with a 4-day history of nausea and vomiting. She had shortening and swelling of the hands, which had occurred in childhood and persisted at the time of admission. X-ray studies showed disappearance of the carpal bones, and multiple osseous erosions of the tarsal bones. Hypertension, severe azotemia, and metabolic acidosis were also noted. Advanced renal disease was documented after a series of investigations, including renal biopsy. She is now dialysis-dependent. This case illustrates the importance of early diagnosis and management of idiopathic multicentric osteolysis with nephropathy.     

Histopathological findings of the nose of Down syndrome abortuses

Recent reports of absent nasal bone in fetuses with Down syndrome have sparked much interest in the use of this finding for the screening of Down syndrome. We describe the histopathological findings of nasal bones of two fetuses with Down syndrome, one with absence and the other with normal ossification of the nasal bone. We propose that histopathological examination of the nasal bone could improve the accuracy of diagnosis of nasal hypoplasia among Down syndrome abortuses.     

Failed methotrexate termination of pregnancy: a case report.

We report a case of a fetus with shortened proximal long bones, ambiguous genitalia, intrauterine growth restriction and abnormal umbilical artery Doppler velocities observed on antenatal ultrasound exam. At 34 weeks the patient revealed methotrexate/misoprostol exposure at 6 weeks gestational age in attempted medical termination of pregnancy. On newborn exam, the baby had dysmorphic facial features, a short torso, scoliosis, a micropenis (phallus <1 cm) and shortened proximal long bones both upper and lower extremities. X-ray exam revealed a hemivertebra at T10 level, rib abnormalities, shortened proximal long bones, an absent pubic bone and bilateral knee ossification centers. With methotrexate exposure, improved counseling and surveillance could potentially avoid these significant abnormalities and prevent psychological distress.     

Spectrum and natural history of congenital hyperparathyroidism secondary to maternal hypocalcemia

Fourteen cases of congenital hyperparathyroidism secondary to maternal hypocalcemia have been reported. We report two additional cases that highlight the wide spectrum of the disease. We extensively studied the parathyroid function of these infants to test the hypothesis that the biochemical hyperparathyroidism found in these infants would be transient in nature, since the presumed etiology (maternal and subsequent fetal hypocalcemia) should disappear soon after birth with establishment of enteral feedings. Infant 1 was born to a mother with idiopathic hypoparathyroidism with poor compliance to therapy and documented hypocalcemia in pregnancy. Severe congenital demineralization and intrauterine fractures with clinical and radiologic bowing of the long bones were obvious. Bone mineral content and bone mineral content/bone width ratio, measured by photon absorptiometry, were both markedly below normal. Infant 2 was born to a mother with postsurgical hypoparathyroidism with excellent compliance. The mother was normocalcemic. The infant was clinically and radiologically asymptomatic. The bone mineral content was just at the lower limit of normal, but bone mineral content/bone width ratio was below the normal limits. Biochemical features include elevation of cord serum parathyroid hormone (1-84, radioimmunoassay) in both cases, coexisting with serum calcium, phosphorus concentrations within normal limits. Serum parathyroid hormone fell to within normal ranges by 9 days of age in both infants. With no treatment, bone mineral content at 1 month of age was normal in both infants.     

Micromelic dwarfism--humerus, femur and tibia type

We report a baby with severe micromelic dwarfism characterized by severe shortening of the humeri, femora and tibiae with hypoplastic radii, ulnae and fibulae which are of normal shape. We suggest that this case is similar to the case reported by Baxova et al [(1993), Paediatr Radiol 23:446-449] confirming the identity of this new bone dysplasia.     

Prenatal diagnosis of Bruck syndrome

Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself.     

Severe acute respiratory syndrome in pregnancy

BACKGROUND: There is limited worldwide experience with severe acute respiratory syndrome (SARS) in pregnancy. We present a case of SARS complicating pregnancy in the third trimester, with outcome data on both the mother and baby. CASE: A 33-year-old gravida 2 para 1 fulfilling the World Health Organization case definition for probable SARS was admitted to our institution at 31 weeks of gestation with fever, a dry cough, and patchy infiltrates on chest X-ray. The patient was previously healthy and acquired SARS from close contact with an infected family member. Convalescent serology results were positive for antibodies to coronavirus. She stayed in hospital for 21 days and did not require intensive care admission or ventilatory support. Labor occurred spontaneously at term, and a healthy female baby was delivered with no evidence of infection. CONCLUSION: Severe acute respiratory syndrome in pregnancy is a potentially life-threatening illness with complicated management issues. Hospitalization and care by a multidisciplinary team may optimize chances for a good outcome.     

Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndrome.

Facial abnormalities are common in neonates with Down syndrome. This report describes nasal bone abnormalities in 3 unselected fetuses with Down syndrome detected prenatally by ultrasonography. Two of the fetuses had ultrasonographically undetectable nasal bones and 1 had a nasal bone measurement that was below the 2.5th percentile of the normal distribution for that gestational age.     

Nasal bone hypoplasia: is it a common finding amongst chromosomally normal fetuses of southern Chinese women?

OBJECTIVE: To assess the incidence of nasal hypoplasia among fetuses of southern Chinese women. METHODS: This prospective observational study was conducted at Princess Margaret Hospital, Hong Kong. All pregnant women referred for chromosomal studies before 14 weeks were assessed. The crown-rump length, nuchal translucency thickness, and nasal bone were assessed between 11 and 14 weeks. RESULTS: A total of 143 women were recruited. In 119 fetuses, facial profiles were successfully obtained and the presence or absence of nasal bones was assessed. One hundred and fourteen fetuses had normal karyotypes. The rate of absence nasal bone when assessed between 11-14 weeks was 0.88% in the fetuses with a normal karyotype. During the same period, 2 out of 3 fetuses with Down syndrome had absence of nasal bones. A nasal bone was visualized in one fetus with Edward syndrome and the other with Turner syndrome (45 X). CONCLUSION: The incidence of nasal hypoplasia is not increased among fetuses of southern Chinese women. Assessment of ossification of the nasal bone can be used to supplement first-trimester screening in Chinese women.     

Disuse osteoporosis as evidence of brachial plexus palsy due to intrauterine fetal maladaptation

We report what may be overlooked evidence of the effects of intrauterine maladaptation as a cause of brachial plexus palsy. A case of total brachial plexus palsy in the posterior arm associated with Horner's syndrome and severe demineralization of the bones of the affected arm is analyzed. In this litigated case, a report of marked demineralization of the bones of the affected arm was analyzed by the plaintiff's radiology expert as diagnostic of disuse osteoporosis. The presence of clear-cut evidence of disuse osteoporosis during the early neonatal period is compelling evidence of an intrauterine onset of brachial plexus palsy.     

Bébé Arlequin : une ichtyose rare et unique. À propos d’un cas

Ichthyosis is clinically characterized by the existence of visible flakes on the skin. The four main hereditary ichthyosis are: ichthyosis vulgaris autosomal dominant transmission, X-linked ichthyosis, lamellar ichthyosis, and congenital ichthyosiform necrolysis. At birth, the ichthyosis can be unapparent or realize collodion baby or Harlequin fetus. The Harlequin fetus is the most severe form and usually lethal ichthyosis. It is transmitted as an autosomal recessive. This is clinically a rare form of skin disease with large, thick, and yellowish scales, separated by deep red crevices giving the appearance of a baby frog. There are many forms of ichthyosis: isolated, localized (pityriasis rotunda, genodermatosis in roundels, CHILD syndrome, etc.), or associated with other extracutaneous manifestations (Dorfman-Chanarin disease, Sjögren-Larsson syndrome, Refsum disease, etc.). We here review a rare form of Harlequin fetus admitted to the neonatal unit at day 1 of life.     

Lethal non-rhizomelic dysplasia epiphysealis punctata

We describe two new cases of a rare form of lethal chondrodysplasia punctata (so-called X-linked dominant, non-rhizomelic form), a condition characterized by widespread multicentric stippled calcifications of the cartilaginous parts of the long bones, spine, ribs and flat bones. The mother of one of the patients had bone dysplasia consistent with the X-linked dominant form of chondrodysplasia punctata. We suggest that a skeletal survey, including lateral view of the spine, together with biochemical studies of peroxisomal status are indicated in all newborns with severe, unusual forms of chondrodysplasia punctata. In this way, accurate categorization of the lethal, non-rhizomelic types of this condition will be facilitated.