Clinical Dysmorphology (CLIN DYSMORPHOL)

Publications in this journal

• Article: Macrocephaly-capillary malformation: a report of four Chinese patients and literature review

  Ho Ming Luk, Ivan F.M. Lo, Carman W.S. Lai, Wai Lan Yeung, Stephen T.S. Lam
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  ABSTRACT: We report a series of four patients with macrocephaly-capillary malformation (M-CM) who are the first ever reported M-CM patients among Chinese individuals. The salient clinical features and recent diagnostic criteria are discussed. M-CM is a multisystem disease characterized by macrocephaly and cutaneous vascular malformation. Neurodevelopmental abnormalities such as developmental delay, structural brain malformation, and hydrocephalus are common, and thus vigilant clinical and neuroradiological assessment is essential during the first few years of life. Cardiac and tumour surveillance would also be beneficial in selected cases.
  Clinical Dysmorphology 03/2012; 21(2):64–68.
• Article: Myhre syndrome with ataxia and cerebellar atrophy

  Ruxandra Bachmann-Gagescu, Fukie Marie Hisama, Amy Lawson Yuen
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  ABSTRACT: An abstract is unavailable. This article is available as HTML full text and PDF.
  Clinical Dysmorphology 06/2011; 20(3):156–159.
• Article: Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome

  Yoko Narumi, Takashi Shiihara, Hiroshi Yoshihashi, Satoru Sakazume, Marjo S. van der Knaap, Akira Nishimura-Tadaki, Naomichi Matsumoto, Yoshimitsu Fukushima
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  ABSTRACT: An abstract is unavailable. This article is available as HTML full text and PDF.
  Clinical Dysmorphology 06/2011; 20(3):166–167.
• Article: Femoral facial syndrome: a case report with coexistent hydrocephaly.

  Allen L Ho, Nathalie Lefloch, Michael L Levy, Lynne M Bird
  Clinical Dysmorphology 11/2008; 17(4):259-63.
• Article: Osteogenesis imperfecta type IIa with pseudoanencephaly.

  Helen Wainwright, Peter Beighton
  Clinical Dysmorphology 11/2008; 17(4):271-2.
• Article: Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome.

  Mary O'Driscoll, Clarie Peckham, Bronwyn Kerr
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  ABSTRACT: We present a female infant with a combination of finger duplication, amniotic band-like constrictions and extensive syndactyly affecting all four limbs with skin tags. No facial dysmorphic features nor associated malformations were present. Growth and development was normal and there was no family history of congenital abnormalities. The presence of constriction band-like regions on the hands and absent or hypoplastic digits suggests the amniotic deformity, adhesion and mutilation complex. Mutations in the human homologue of the mouse gene disorganization gene may also be the mechanism for the combination of constriction/duplication abnormalities with distant skin tags seen in this patient.
  Clinical Dysmorphology 11/2008; 17(4):255-8.
• Article: A case of persistent pulmonary hypertension in a newborn with Costello syndrome.

  Joyce O'shea, Sally Ann Lynch, Sheila Macken
  Clinical Dysmorphology 11/2008; 17(4):287-8.
• Article: Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome.

  Murat Kadri Erdoğan, Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş
  Clinical Dysmorphology 11/2008; 17(4):289-90.
• Article: Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.

  Lesley C Adès
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  ABSTRACT: Loeys-Dietz syndrome (LDS) is a recently recognized arterial aneurysm syndrome because of heterozygous mutations in TGFBR1 or TGFBR2. Two subtypes have been delineated: LDS I, with features including craniosynostosis, hypertelorism and cleft palate and/or bifid uvula, and LDS II, wherein the face is reportedly normal. The most salient feature in LDS, whether type I or II, is of a generalized arteriopathy. The craniofacial features of LDS I are recognizable. No particular craniofacial phenotype has been reported in LDS II. We describe the evolution of facial features with age in seven LDS II patients harbouring a TGFBR1 or TGFBR2 mutation. Most patients had dolichocephaly, a tall broad forehead, frontal bossing, a high anterior hairline, hypoplastic supraorbital margins, a 'jowly' appearance (particularly in the first 3 years of life), translucent and redundant facial skin (often most pronounced in the periorbital region), prominent upper central incisors in late childhood/adulthood, and an open-mouthed myopathic face. The adult faces appeared prematurely aged. Although not exclusive to LDS II alone, recognition of these facial features may assist in the differentiation of LDS II from closely related conditions, and facilitate diagnosis and appropriate investigations and management.
  Clinical Dysmorphology 11/2008; 17(4):243-8.
• Article: Cenani-Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report.

  Hisham Jarbhou, Hanan Hamamy, Azmy Al-Hadidy, Kamel Ajlouni
  Clinical Dysmorphology 11/2008; 17(4):269-70.
• Article: Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism.

  Sibel Sonmez, Robert J Forsyth, Debbie S F Matthews, Michael Clarke, Miranda Splitt
  Clinical Dysmorphology 11/2008; 17(4):265-7.
• Article: Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.

  Natalie L E Canham, Susan E Holder
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  ABSTRACT: Macrocephaly-cutis marmorata telangiectatica congenita was first identified as a distinct syndrome in 1997. Since then there have been more than 10 further reports of the condition, several also comprising reviews of the earlier literature. Virtually all reported patients, however, are young children, and there is very little information about the natural evolution of the condition in adolescence and later life. This report describes a patient with features of macrocephaly-cutis marmorata telangiectatica congenita, though mildly affected, and her progression into teenage life. Her mild problems, many of which have largely resolved, demonstrate a possible more optimistic view of the condition than is currently held. The difficulties in making the diagnosis in an adult patient are also discussed.
  Clinical Dysmorphology 11/2008; 17(4):279-81.
• Article: Chondrodysplasia punctata: a clinical diagnostic and radiological review.

  Melita D Irving, Lyn S Chitty, Sahar Mansour, Christine M Hall
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  ABSTRACT: Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the biochemical and molecular basis of a number of CDP syndromes has recently been elucidated and a new aetiological classification has emerged. Here we provide an updated version with an overview of the different types of CDP, a discussion of the aetiology and a description of the clinical and radiographic findings. An investigative guideline to help determine the exact diagnosis in new cases is also presented.
  Clinical Dysmorphology 11/2008; 17(4):229-41.
• Article: A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.

  Pia E Vuorela, Maila T Penttinen, Marja H Hietala, Jukka O Laine, Kirsi A Huoponen, Helena A Kääriäinen
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  ABSTRACT: The autosomal dominant CHARGE syndrome (MIM musical sharp214800) is caused by mutations in the CHD7 gene. It is usually sporadic but a few cases with gonadal mosaicism and familial inheritance have been reported. We describe a familial CHARGE syndrome in a two-generation Finnish family with a nonsense mutation in the CHD7 gene. Detailed clinical examination of the affected family members was performed, and mutations in the CHD7 gene were analysed with direct sequencing and multiplex ligation-dependent probe amplification. A nonsense mutation, p.Q1599X, was detected in exon 21 of the CHD7 gene in three affected family members. The father was only mildly affected, whereas his son had a very severe manifestation of the syndrome, causing death at the age of 3 months. The second pregnancy was prematurely terminated in the 23rd week because of cardiac anomalies detected in the ultrasound scan. The father's brother also had mild symptoms, but no mutation was detected in him. In this report, the variability of clinical symptoms within families and the clinical importance of mildly affected patients with the CHARGE syndrome are underlined with implications for molecular genetic diagnostics of the syndrome. Features not described in the CHARGE syndrome before are also presented.
  Clinical Dysmorphology 11/2008; 17(4):249-53.
• Article: Complementation in a 45,X/47,XX,+14 patient?

  Dian Donnai, Jill Clayton-Smith, Michael Baraitser
  Clinical Dysmorphology 11/2008; 17(4):291.
• Article: Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome.

  Alessandro Paluzzi, Laura J Viva, Pali Kalsi, Nitin Mukerji, Nick Tzerakis, Michael A Patton
  Clinical Dysmorphology 11/2008; 17(4):283-5.
• Article: Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations.

  Daniel R Carvalho, Isabela M Rizzo, Luciano Farage, Araci L C Barros, Carlos E Speck-Martins
  Clinical Dysmorphology 11/2008; 17(4):273-4.
• Article: Further case of metaphyseal acroscyphodysplasia with cone-shaped epiphyses (Bellini disease or metaphyseal dyschondroplasia).

  Teresa De Toni, Anwar Baban, Emanuele Colombo, Amanda Arnello, Maria Teresa Divizia, Margherita Lerone
  Clinical Dysmorphology 11/2008; 17(4):275-8.
• Article: Occipital encephalocele and hypoplastic thumb: a nonrandom association of malformations

  Daniel R. Carvalho, Isabela M. Rizzo, Luciano Farage, Araci L.C. Barros, Carlos E. Speck-Martins
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  ABSTRACT: An abstract is unavailable. This article is available as HTML full text and PDF.
  Clinical Dysmorphology 09/2008; 17(4):273-274.