Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes

Müller, Friedrich Max; Barth, G. M.; Menger, H.; Spranger, J.

doi:10.1002/ajmg.1320470522

Cited by 3 publications

(1 citation statement)

References 8 publications

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“…In 1993, two siblings were described who had a new, probably autosomal recessive syndrome with hypoplastic corpus callosum, seizures, hypertrichosis, overlapping fingers, and early death in one of the siblings [Müller et al, 1993]. However, these children had macrocephaly at birth, dolichocephaly, craniosynostosis, claw hands, and low set ears, none of which was present in our patients.…”

Section: Discussionmentioning

confidence: 72%

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death

Basel‐Vanagaite

Marcus

Klinger

et al. 2003

American J of Med Genetics Pt A

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We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis, short nose, paranasal widening, long philtrum, short neck, upper limb micromelia, single transverse palmar lines, and clasp thumbs. The proband had repeated convulsions from shortly after birth and she required continuous artificial ventilation. Neurological examination showed absent sucking, rooting, Moro and grasping reflexes. MRI revealed a diffuse simplified gyral pattern with apparent agyria over the frontal lobes. Biochemical screening gave normal results. Her older sister had bilateral renal pelvic dilatation on prenatal ultrasound. She also developed severe convulsions on the first day of life, and she had to be artificially ventilated for 38 days. She had severe developmental retardation and neurological examination showed absence of spontaneous movements and Moro reflex, weak sucking reflex, and hypertonicity. CT scan of the brain showed a simplified gyral pattern. At 3 months, she developed hypocalcemia and hyperphosphatemia with normal levels of vitamin D and alkaline phosphatase, and parathyroid hormone level was low. Other biochemical tests gave normal results. She died at 5 months due to a massive aspiration event. Based on the unique clinical and radiological features found in our patients, we propose that this is a new syndrome.

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Section: Discussionmentioning

confidence: 72%

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death

Basel‐Vanagaite

Marcus

Klinger

et al. 2003

American J of Med Genetics Pt A

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show abstract

References (Gamuts)

2007

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias

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Inherited hypertrichoses

2002

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Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly androgen dependent, and it is independent of age, race or sex. It can be congenital, late-onset, generalized, localized, inherited or acquired. More than 50 different OMIM entries related to hypertrichosis exist, few of them with a localized gene locus or with a candidate gene. The review of generalized hypertrichoses from a historical point of view, including a review of their clinical and genetic features, shows heterogeneity with at least nine different entities. A short analysis of other forms of hypertrichosis is presented.

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Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes

Cited by 3 publications

References 8 publications

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death

References (Gamuts)

Inherited hypertrichoses

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