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[source] | ||
pmid = PMID:29127725 | ||
title = A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function | ||
[diagnosis] | ||
disease_id = OMIM:174300 | ||
disease_label = Orofaciodigital syndrome V | ||
[text] | ||
Patient 1 was the first born from healthy parents, non-consanguineous for their account. | ||
Family history was unremarkable, except for three prior spontaneous | ||
miscarriages. The pregnancy was complicated by intrauterine growth | ||
retardation. Delivery at term was normal, with a weight at birth of | ||
2,350 g (<3rd centile), length of 47 cm (3rd centile), and occipital– | ||
frontal circumference of 32 cm (5th centile). APGAR scores were 6 and | ||
9 at 1 and 5 min, respectively. He had bilateral postaxial extra-digits | ||
on his hands that were surgically removed in his late childhood. He | ||
also had bilateral cutaneous syndactyly of fingers 2–5, clinodactyly of | ||
the fifth fingers, and fingertip pads. His lower limbs were normal. Since | ||
the first months of life, he developed generalized seizures, which were | ||
controlled by anticonvulsant drugs. Developmental milestones were | ||
delayed and the patient showed cognitive difficulties during childhood, | ||
with an I.Q. of 70 (Terman-Merril scale) measured at the age | ||
of 9 years. For these reasons, he has undergone developmental and | ||
speech therapies since the age of 3 years. At the age of 17 years, his | ||
height was 165 cm (3rd centile), weight was 67 kg (50th centile), and | ||
head circumference 53 cm (10th centile). He had distinctive facial features, | ||
including prominent thick eyebrows, malocclusion, high-arched | ||
palate, and rounded prominent jaw (Figure 1G and H). | ||
A cerebral magnetic resonance imaging (MRI) disclosed thinning of the cerebral cortex | ||
in front of the ventricular collateral trigone (not shown). | ||
Wakefulness electroencephalograms showed diffuse high amplitude slow | ||
waves intermingled with sharp waves or spikes. Since early adulthood | ||
he started to complain of migraine. As part of his neurological presentation, | ||
he also presented lower limbs weakness and some walking difficulties. At the age of 30, after an episode of loss of consciousness | ||
associated with generalized seizures, he underwent a follow-up brain | ||
MRI scan, which showed diffuse white matter signal abnormalities and | ||
multifocal cortical–subcortical infarcts involving both cerebral hemispheres (Figure 1P and Q). |
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22 changes: 22 additions & 0 deletions
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...narchinitiative/phenopacket2prompt/output/impl/english/PPKtEnglishBuildingBlocksTest.java
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package org.monarchinitiative.phenopacket2prompt.output.impl.english; | ||
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import org.junit.jupiter.api.Test; | ||
import org.monarchinitiative.phenopacket2prompt.model.Iso8601Age; | ||
import org.monarchinitiative.phenopacket2prompt.output.PPKtBuildingBlockGenerator; | ||
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import static org.junit.jupiter.api.Assertions.assertEquals; | ||
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public class PPKtEnglishBuildingBlocksTest { | ||
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public final static PPKtBuildingBlockGenerator generator = new PPKtEnglishBuildingBlocks(); | ||
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@Test | ||
public void oneMonth() { | ||
String expected = "1 month"; | ||
Iso8601Age iso = new Iso8601Age("P1M"); | ||
String result = generator.fromIso(iso); | ||
assertEquals(expected, result); | ||
} | ||
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} |
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