Cases reported "Achondroplasia"

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1/14. achondroplasia-hypochondroplasia complex in a newborn infant.

    We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested antenatally when obstetrical ultrasonography at 27 weeks of gestation showed short limbs, small chest, and macrocephaly. The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene. Neither had had genetic counseling or molecular testing prior to the pregnancy. Antenatal ultrasound study at 29 weeks of gestation showed a large head, very short limbs, and a small chest; the findings were more severe than in achondroplasia or hypochondroplasia alone. The patient was born by cesarean section at 37 weeks of gestation and had rhizomelic shortness of limbs with excess skin creases, large head, and small chest, diagnostic of achondroplasia. Radiographs showed shortness of the long bones and flaring of the metaphyses. She had mild hypoplasia of lungs. Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex. At 8 months, she has disproportionate shortness of the long bones and a large head with frontal bossing and a depressed nasal bridge. Her chest remains small, and she is on home oxygen at times of respiratory stress. She has a large gibbus. She is delayed in her motor development and has significant head lag. To our knowledge, there is only one previously published report of achondroplasia-hypochondroplasia complex.
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2/14. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.

    We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and hypochondroplasia. The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene. The fetus was found to carry both mutations diagnosed prenatally by amniocentesis at 17.6 weeks of gestation, following maternal serum screening which showed an increased risk for down syndrome (1:337). Detailed fetal ultrasound studies showed a large head, short limbs, and a small chest at 22 weeks of gestation. The changes were more severe than those of either achondroplasia or hypochondroplasia. The patient was born by cesarean section at 38 weeks of gestation and had rhizomelic shortness of the upper and lower limbs with excess skin folds, large head, enlarged fontanelles, frontal bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest. Skeletal radiographs showed shortness of the long bones and flare of metaphyses. He had respiratory difficulties and was treated with nasal prongs. seizures developed on day 2 of life and recurred on day 9 and responded to treatment with phenobarbital. brain computed tomographic scan showed possible grey matter heterotopia, partial agenesis of the corpus callosum, and cortical dysplasia. To our knowledge, there are only two previously published cases of compound heterozygous achondroplasia-hypochondroplasia patients. The diagnosis was confirmed by dna mutation analysis of the FGFR3 gene in both cases.
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3/14. Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.

    Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.
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4/14. An unusual cause of back pain in an achondroplastic man.

    A case is described of a 47-year-old man with achondroplasia who presented with lower back pain radiating to his left loin. An intravenous urogram (IVU) showed hydronephrosis on the left side and a dilated left ureter passing down into the left inguinal region. A CT scan confirmed a left inguinal hernia containing the left ureter causing ureteric obstruction. The hernia was repaired using the Lichtenstein technique with the ureter replaced retroperitoneally. A postoperative IVU showed recovery in renal function but with a persistently dilated left ureter that was not obstructed. A review of the literature regarding inguinal herniation involving the ureter is presented.
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5/14. Chest wall deformity and respiratory distress in a 17-year-old patient with achondroplasia: CT and MRI evaluation.

    A marked thoracic deformity associated with intrathoracic tracheal narrowing was seen in a 17-year-old with achondroplasia and dyspnea. The role of chest deformity and its evaluation by CT and MRI in achondroplastic patients with respiratory symptoms are considered.
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6/14. Failed regional anesthesia with reduced spinal bupivacaine dosage in a parturient with achondroplasia presenting for urgent cesarean section.

    A 36-year-old patient with a history of previous back surgery, asthma, latex allergy and achondroplasia presented for urgent cesarean delivery at 31 weeks' gestation for worsening nonimmune fetal hydrops. The fetus was diagnosed with trisomy 21 and achondroplasia. Because of the urgent clinical situation, the patient was given a spinal anesthetic, which required supplemental intravenous sedation after delivery of the fetus. This case report discusses the controversies in anesthetic management of this complicated patient and compromised fetus regarding general anesthesia, epidural, spinal and combined spinal-epidural anesthesia.
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7/14. Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature.

    The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm). The foramen magnum was narrowed, the transverse diameter measuring 15 mm and the 50th percentile being, for age, 26 mm. Somatosensory evoked potentials (SEPs) revealed bilaterally prolonged interpeak latencies Erb-N13, slowing of central conduction time N13-N20 from right median nerve stimulation, and block from left median nerve. The suspicion of cervicomedullary compression was confirmed by MRI, showing a very marked stenosis with compression exerted by the odontoid process. Further, a stenotic cervical canal and optic nerves verticalization were manifest. The patient underwent neurosurgical decompression by suboccipital craniectomy and cervical-C1 laminectomy. In spite of treatment, both neurologic and respiratory problems (rapid, shallow and almost abdominal breathing) were unchanged. The girl died 4 1/2 months later. The authors emphasize the important role of SEPs in detection of cervicomedullary compression in achondroplastic children and also stress the necessity of an early surgical treatment as the only condition for possible clinical improvement and/or full recovery.
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8/14. Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia?

    We have observed apneustic breathing in five patients with achondroplasia. In contrast to experimental models of apneusis, these patients appeared to have intact vagal function and no evidence of pontine disease. However, all our patients displayed clinical, structural, and electrophysiologic features of cervicomedullary compression, a well-recognized complication of achondroplasia. The degree of apneustic breathing was reduced in the majority of our patients following decompressive surgery. Traditional theories on the pathogenesis of apneustic breathing cannot satisfactorily explain the presence of apneustic breathing in our patients. We suggest that cervicomedullary compression may be capable of producing apneustic breathing in the absence of vagal or pneumotaxic center lesions.
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9/14. Narrowing of thoraco-lumbar spinal canal in achondroplasia.

    The incidence of neurological deficits in achondroplastic subject is by no means negligible. We considered the clinico-radiological and therapeutic data of 35 achondroplasic patients (5 personal cases and 30 published in the available literature) harbouring myelo-radicular deficits related to narrowing of thoraco-lumbar canal. There was no significant sex prevalence. The clinical symptoms appear most frequently in the III or IV decades of life. Actually morphological anomalies of the spinal canal are already present at birth in achondroplasic dwarfs, and signs of cervical cord involvement are not uncommon in achondroplasic children. The delayed occurrence of clinical symptoms related to narrow toracho-lumbar canal may be explained by the pathogenetic role of acquired cofactors as prolapse of intervertebral disks and for degenerative spondyloartrosis. The clinical history is usually of insidious onset. Most frequent symptoms are motor weakness of the lower limbs (82.8%) and low-back pain (77.1%). Sensory and/or sphincter disturbances appeared to be less frequent (about 40% of the examined subjects). Plain x-rays, myelography, CT, CT-myelography and MRI are the diagnostic examination of choice. Surgical treatment consists of anterior decompression with fusion, when thoraco-lumbar kyphosis is prevalent, and/or posterior decompression, when the symptoms are mainly caused by canal stenosis. From the prognostic point of view, two groups of patients are recognized, in relationship to the presence of marked dorsal kyphosis. Those with kyphosis showed almost invariably poor functional results. In the remaining ones the results were satisfactory, provided that the clinical history lasted less than 3 years and the symptomatology was not already too advanced.
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10/14. hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension.

    The significance and cause of ventriculomegaly in achondroplasia was investigated in five achondroplastic children. The intraventricular pressure (IVP) was monitored over 24 hours, followed by intraventricular injection of radionuclide alone or in combination with water-soluble contrast material. The IVP was elevated and the reabsorption of cerebrospinal fluid (CSF) into the sagittal sinus was slow in all cases, but there was no obstruction to CSF flow. The spinal subarachnoid space was well seen in all patients. Jugular venograms with pressure monitoring were obtained in four patients (bilaterally in one). These studies confirmed a narrow jugular foramen in all patients with a significant venous pressure gradient (3 to 10 mm Hg) obtained while the catheter was being pulled back from the sigmoid sinus through the foramen. A second gradient was found in the jugular vein in two patients at the level of the upper thoracic aperture. This gradient was 6 and 14 mm Hg, respectively. Identical venograms and monitoring of the venous pressure in a control group showed no pressure gradients across the jugular foramen and smaller gradients (2 to 5 mm Hg) across the thoracic inlet. It is concluded from these studies that ventriculomegaly in achondroplastic children represents hydrocephalus, which is likely secondary to raised intracranial venous pressure due to hemodynamically significant stenosis of the jugular foramen and, in some cases, the jugular vein in the thoracic aperture.
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