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American Journal of Medical Genetics 76:276–278 (1998)

Letter to the Editor


Intractable Apneic Spells Due to Hypoplasia of the
Atlas in a Patient With Unclassifiable
Short-Rib Dysplasia

To the Editor: the clavicles, short ribs with cupped anterior ends,
ovoid vertebral bodies, trident pelvis, short long bones
The short-rib dysplasia group encompasses lethal or with metaphyseal spurs, a bulbous appearance of the
potentially lethal skeletal dysplasias, including as- ulnae and hypoplastic proximal radii with luxation of
phyxiating thoracic dysplasia, Ellis-van Creveld dys- the radial heads, striking brachydactyly with particu-
plasia, and several forms of short-rib polydactyly dys- larly short distal phalanges and advanced ossifications
plasia [International Working Group on Constitutional of the humeral heads, and coracoid processes of the
Diseases of Bone, 1992]. In addition, there are many scapulae and sternal bodies (Fig. 1b). The constellation
unclassifiable cases, whose phenotypes do not com- of these skeletal alterations most closely resembled
pletely fit those of the aforementioned entities [Brue- that of the most severe phenotype of Ellis-van Creveld
ton et al., 1990; Franceschini et al., 1995]. The common dysplasia. However, the modification of the vertebral
skeletal alterations of the short-rib dysplasia group bodies and metaphyseal spurs mimicked those of short-
consist of thoracic hypoplasia, premature ossifications rib dysplasia type III (Verma-Naumoff type); accord-
of the juxtatruncal epiphyses, and severe brachydac- ingly, the final diagnosis was an unclassifiable form of
tyly with or without polydactyly. Concurrence of di- short-rib dysplasia.
verse visceral anomalies is the other hallmark of this At age 7 months, she had recurrent apneic attacks
group. Affected individuals commonly succumb to tho- with upward deviation of the eyes, opisthotonus, and
racic hypoplasia and/or visceral malformations in the extension of the arms, which were initially attributed
perinatal period or early infancy. Here we report on an to epilepsy. Nevertheless, electroencephalogram was
infant with an unclassifiable form of short-rib dyspla- unremarkable, and antiepileptic medication was not
sia, who exhibited hypoplasia of the atlas, causing com- beneficial. MRI showed impingement of the medulla
pression of the medulla oblongata and upper cervical oblongata and upper cervical cord on the hypoplastic
cord, and, ultimately, intractable apneic spells. This is atlas, which was considered to be the cause of the spells
a previously undescribed abnormality in this group. (Fig. 1c). The patient underwent decompressive sur-
The patient was a Japanese girl who was the first gery, which completely relieved her spells.
child of healthy, nonconsanguineous parents. She was Craniovertebral junction abnormalities occasionally
vaginally delivered at 41 weeks of gestation after an cause hazardous complications in skeletal dysplasias.
unremarkable pregnancy. Birth length was 48.4 cm Impingement of the medulla oblongata on a narrow
(−0.9 SD), weight 3,020 g (−0.7 SD), head circumfer- foramen magnum in achondroplasia leads to quadripa-
ence (OFC) 35.5 cm (+1.2 SD), and thoracic circumfer- resis, apnea, and even sudden death. Atlantoaxial sub-
ence 29.0 cm (−1.8 SD). Tachypnea with cyanosis that luxation causes neurologic symptoms in many skeletal
commenced soon after birth required supportive venti- dysplasias. In the present patient, compression of the
lation, from which the patient was never weaned. She medulla oblongata and upper cervical cord due to hy-
exhibited a depressed nasal bridge, a narrow thorax poplastic atlas resulted in refractory epilepsy-like ap-
with protuberant abdomen, acromesomelic shortness of neic attacks resembling those in the symptomatic
the limbs, and severe brachydactyly with hypoplastic Chiari malformation [Bell et al., 1987]. Foreshortened
nails (Fig. 1a). There was no polydactyly. Neither car- arch of the atlas is a rare cause of spinal canal stenosis
diac anomaly nor renal abnormality was seen on ultra- at the craniovertebral junction, and it has not been
sonography. reported in the short-rib dysplasia group or in other
Skeletal survey showed a handlebar appearance of skeletal dysplasias. The etiology remains speculative,
and may be due to either constitutionally impaired en-
chondral ossification or dysmorphogenesis of the carti-
*Correspondence to: Gen Nishimura, M.D., Department of Ra- laginous anlage of the atlas. Individuals with disorders
diology, Dokkyo University School of Medicine, 880 Kitabobaya- in the short-rib dysplasia group should be monitored
shi, Mibu, Shimotsuga-gun, Tochigi-ken 321-02, Japan. for spinal canal stenosis at the craniovertebral junc-
Received 26 March 1997; Accepted 19 September 1997 tion. MRI is the best modality for this purpose.
© 1998 Wiley-Liss, Inc.
Letter to the Editor 277

Fig. 1. Photograph of patient (a), skeletal radiograph (b), and MRI of


craniovertebral junction (c). Note impingement of the medulla oblongata
and upper cervical cord on the hypoplastic atlas (arrow in c).
278 Inomata et al.

REFERENCES
Bell WO, Charney EB, Bruce DA, Sutton LN, Schut L (1987): Symptomatic Naoko Inomata
Arnold-Chiari malformation: Review of experience with 22 cases. J Rikuo Hoshino
Neurosurg 66:812–816. Division of Neonatology
Brueton LA, Dillon MJ, Winter RM (1990): Ellis-van Creveld syndrome, Kanagawa Children’s Medical Center
Jeune syndrome, and renal-hepatic-pancreatic dysplasia: Separate en-
tities or disease spectrum? J Med Genet 27:252–255. Yokohama, Japan
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani
MP (1995): Short rib-dysplasia group (with/without polydactyly): Re-
port of a patient suggesting the existence of a continuous spectrum. Am Gen Nishimura*
J Med Genet 59:359–364.
Department of Radiology
International Working Group on Constitutional Diseases of Bone (1992):
International classification of osteochondrodysplasia. Eur J Pediatr Dokkyo University School of Medicine
151:407–415. Tochigin, Japan

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