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Hypoplasia of the transverse sinus in oto-palato-digital syndrome type I

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American Journal of Medical Genetics 79:401–402 (1998)
Letter to the Editor
Hypoplasia of the Transverse Sinus in
Oto-Palato-Digital Syndrome Type I
To the Editor:
Oto-palato-digital syndrome (OPD) type I is an Xlinked recessive disorder comprising characteristic facial appearance and skeletal alterations. Although
mild mental deficiency is common in this entity, very
little is known about abnormalities of the central nervous system. We encountered a boy with OPD type I,
who showed severe hypoplasia of the transverse sinuses with enlarged occipital sinuses. This malforma-
tion of the basilar dural sinuses may be a syndromal
constituent in OPD type I.
The patient was the first child of healthy nonconsanguineous parents. The family history was unremarkable. The patient was normally delivered at 39 weeks of
gestation after an unremarkable pregnancy. Birth
weight was 2836 g. He was referred at age 1 month for
cleft palate and abnormal toes. Physical findings included hypertelorism; apparently low-set and malformed ears; broad, short thumbs and long second toes;
Fig. 1. (a) A photograph of the patient at age 3 years. (b) Foot of the patient, broad thumb and long second toe.
*Correspondence to: Hiroshi Suzumura, The 1st Department of
Pediatrics, Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga-gun, Tochigi 321-0293, Japan.
Received 12 February 1998; Accepted 30 June 1998
© 1998 Wiley-Liss, Inc.
Hypoplasia of the Transverse Sinus in OPD Type I
Fig. 2. (a) Brain MRI at 3 years of age showing enlargement of lateral ventricles. (b) MR venography showing absence of proximal portion (short
arrow), hypoplasia of distal portion (long arrow) of bilateral transverse sinuses, and enlargement of the occipital sinus.
brachydactyly with undertubulation of the short tubular bones led to the diagnosis of OPD type I. Auditory
brainstem response study performed at 1 year and at 3
years demonstrated bilateral sensorineural hearing
impairment. Fig. 1 shows the face and toes of this patient at age 3 years.
Magnetic resonance imaging (MRI) of the brain at 1
year of age demonstrated enlargement of the lateral,
third, and fourth ventricles without dilatation of cortical sulci, presumably indicating communicating hydrocephalus. However, his head circumference was normal. Follow-up MRI of the brain at 3 years did not demonstrate any interval change in ventricular size (Fig. 2a).
MR venography using Gd-DTPA disclosed malformations
of the basilar dural sinuses: the absence of the proximal
part of the transverse sinuses, hypoplasia of the distal
part of the transverse sinuses, and enlargement of the
occipital sinuses. The sigmoid sinuses were kinked and
slightly reduced in size. The sagittal sinus was connected
directly to the enlarged occipital sinuses (Fig. 2b).
The malformation of the basilar dural sinuses in our
patient was a unique finding. There have been several
reports of unilateral absence of the transverse sinus
[Lydiatt et al., 1991; Waltner, 1944]. However, to our
knowledge, bilateral absence or hypoplasia of transverse sinuses has not been reported. In our patient,
venous blood flow in the brain was mainly drained by
the dilated occipital sinuses instead of the hypoplastic
transverse sinuses, which may have caused arrested
hydrocephalus in this patient. This anomalous venous
drainage may not be sufficient to provide total venous
drainage of the brain, and may ultimately lead to increased intracranial pressure, as does the compression
of the jugular vein at the craniovertebral junction in
achondroplasia [Steinbok et al., 1989].
Lydiatt DD, Ogren FP, Lydiatt WM, Hahn FJ (1991): Increased intracranial pressure as a complication of unilateral radial neck dissection in a
patient with congenital absence of the transverse sinus. Head Neck
Steinbok P, Hall J, Flodmark O (1989): Hydrocephalus in achondroplasia: The
possible role of intracranial venous hypertension. J Neurosurg 71:42–48.
Waltner JG (1944): Anatomic variations of the lateral and sigmoid sinuses.
Arch Otolaryngol 39:307–312.
Hiroshi Suzumura*
Ken-ichi Kano
The First Department of Pediatrics
Dokkyo University School of Medicine
Tochigi, Japan
Gen Nishimura
The Department of Radiology
Dokkyo University School of Medicine
Tochigi, Japan
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hypoplasia, syndrome, digital, typed, palate, transverse, oto, sinus
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