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2001-01-14-16 Holoprosencephaly-hypokinesia syndrome (Morse syndrome) © Muñoz Rojas www.thefetus.net/

Holoprosencephaly-hypokinesia syndrome (Morse syndrome)

Maria Verônica Muñoz Rojas, MDa,b, Luís Flávio Gonçalves, MDa,b, Rodrigo Dias Nunes, MDb, Jorge Abi Saab Neto, MDb

aClínica Materno-Fetal, bMaternidade Carmela Dutra, Florianópolis, Brazil,

This is a case of holoprosencephaly-hypokinesia syndrome, or Morse syndrome, detected by ultrasound at 37 weeks of gestation. The child presented holoprosencephaly, microcephaly, hypokinesia, multiple contractures and intrauterine growth retardation. We suggest that our case add to the evidence that Morse syndrome is a disorder with X-linked inheritance.

Case report

This was the first child of a non-consanguineous, young couple. The mother was an 18-year-old white primigesta, HIV negative, and the father was HIV positive virus carrier, drug addicted. The gestation was uneventful until 37 weeks and 3 days of menstrual age when a routine obstetric ultrasound was performed. Multiple malformations were detected:

·         severe microcephaly,

·         depressed forehead,

·         semi-lobar holoprosencephaly,

·         pectus excavatum,

·         joint contractures with extension of the knees, rocker-bottom feet,

·         decreased muscle mass on the thighs and

·         polyhydramnios (figures 1 through 3).

 

Views of the brain demonstrating the holoprosencephaly.

Pectus excavatum

A clenched fist

Fetal blood sampling was performed and a normal 46,XY karyotype was obtained. All other exams were normal, including serum screening for congenital infectious diseases. The child was delivered vaginally at term (38 weeks and 5 days). Apgar scores were 2/2/3 at 1/5/10´ respectively. The male infant presented multiple joint contractures of the fingers, wrist and elbows and persistent extension of the knees. The muscles of the thighs were atrophic with bilateral femoral fractures. Other findings included microcephaly with depressed forehead, blepharoankylosis, micrognathia and prominent gengival ridges (figures 4 and 5). The child developed intense jaundice and petechias all over the body and died a few hours after birth. Although blood samples were taken for infectious diseases, including HIV, all studies remained negative.

Discussion

In 1987, Morse et al. (1987) described two consecutive male fetuses that presented decreased fetal activity, multiple congenital contractures, microcephaly and holoprosencephaly (Table 1). These abnormalities were detected by ultrasound during the second trimester of gestation. The parents were young and non-consanguineous and had a normal daughter. The likely inheritance in these cases was considered to be autosomal recessive or X-linked1. Shortly after, in 1988, Hockey et al, described two stillborn males whose mothers were sisters, presenting holoprosencephaly, hypokinesia, microcephaly and multiple contractures (Table 1). The diagnosis of Morse syndrome was established, and the authors suggested that this is an entity with X-linked inheritance rather than autosomal recessive2. Morse et al (1987) reviewed the reported central nervous system abnormalities associated with the Pena-Shokeir syndrome (intrauterine growth retardation, facial anomalies, contractures, and pulmonary hypoplasia with normal chromosomes). None of the findings of Morse syndrome is consistently associated with Pena-Shokeir syndrome; also, holoprosencephaly usually occurs without the stigmata of Pena-Shokeir syndrome1. Our patient was a male child who presented all the abnormalities reported by Morse et al and Hockey: decreased fetal activity, multiple congenital contractures, microcephaly and holoprosencephaly. Although autosomal recessive inheritance can not be ruled out, we believe that the following evidence support the hypothesis of X-linked inheritance: no consanguinity in any of the reported cases; recurrence in all families previously described; all the reported cases, including the present one, were male.

Table 1: Clinical and ultrasound findings in reported cases with holoprosencephaly-hypokinesia syndrome (Morse syndrome).

Finding

Morse et al (1987)

Hockey et al. (1988)

 

Case 1

Case 2

Case 1

Case 2

Present case

Diminished fetal activity

+

+

+

+

+

Multiple contractures

+

+

+

+

+

Microcephaly

+

+

+

+

+

Holoprosencephaly

+

+

+

+

+

IUGR

+

+

+

+

+

Micrognathia

+

NR

NR

NR

+

Prominent lateral gengival ridges

+

NR

NR

NR

+

Muscular atrophy of lower limbs

+

+

NR

NR

+

Male gender

+

+

+

+

+

Karyotype 46,XY

+

+

+

NR

+

Skin abnormalities

-

-

-

-

Jaundice, petechias

NR = not reported.

References

1.       Morse RP, Rawnsley E, Sargent S, Graham JM. 1987. Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia. Prenat Diagn 7, 631-638.

2.       Hockey A, Crowhurst J, Cullity G. 1988. Microcephaly, holoprosencephaly, hypokinesia – second report of a new syndrome. Prenat Diagn 8,683-686.

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