Limits...
Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature.

Kilic A, Çakmak SK, Tuncali T, Koz O, Ozhamamci E, Yasun O, Artuz F - Postepy Dermatol Alergol (2015)

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Medical Faculty, Balıkesir University, Balıkesir, Turkey. Head of the Department: Arzu Kilic.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Seckel syndrome (SCKL) is an extremely rare form of primordial dwarfism characterized by growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, and skeletal malformations... In this review, two siblings with a combination of clinical, skeletal, ocular, dental and cytogenetic findings are presented in view of SCKL... General appearance of the patient was characterized by a small, narrow face and forehead, slightly beaked nose, midfacial hypoplasia, very stunted stature with microcephaly (Figure 1)... She was pseudophakic in both eyes from previous cataract surgery when she was 23 years old... There was no significant retinal abnormality observed... Electroretinography (ERG) showed subnormal amplitude of rod-mediated and cone-mediated responses... On intraoral examination, the patient had severe periodontitis, and as a result she had multiple loose teeth, bacterial plaques, lack of posterior first molar teeth on superior chin... The anatomical morphology of the teeth was normal, but she had enamel hypoplasia especially on superior and inferior chin on labial surfaces... Consistent clinical findings in both siblings supported the decision to test the patients’ chromosomes for instability in response to clastogenic agents which are supposed to be caused by defects in the ATR gene coding for ataxia telangiectasia and Rad3 related protein in at least one type of Seckel syndrome... The matched untreated and control cultures were detected as break free... Both patients were found to have normal chromosomal constitution in conventional G-banded metaphase analyses... SCKL (OMIM 210600), belonging to the group of osteodysplastic primordial dwarfism, is characterized by antenatal and postnatal growth delay... Another complication that has been reported in SCKL is acute myeloid leukemia (AML)... Our patients did not have any hematological abnormalities.

No MeSH data available.


General appearance of patient 1 and 2
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4697028&req=5

Figure 0002: General appearance of patient 1 and 2

Mentions: The patient also had developmental difficulties by birth, especially with weight gain like her sister. On general examination, he had an abnormal short stature with a weight of 30 kg and height of 137 cm. His head circumference was 48 cm. He had a receding chin and forehead (Figure 2). No pathology was observed on dermatological examination.


Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature.

Kilic A, Çakmak SK, Tuncali T, Koz O, Ozhamamci E, Yasun O, Artuz F - Postepy Dermatol Alergol (2015)

General appearance of patient 1 and 2
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4697028&req=5

Figure 0002: General appearance of patient 1 and 2
Mentions: The patient also had developmental difficulties by birth, especially with weight gain like her sister. On general examination, he had an abnormal short stature with a weight of 30 kg and height of 137 cm. His head circumference was 48 cm. He had a receding chin and forehead (Figure 2). No pathology was observed on dermatological examination.

View Article: PubMed Central - PubMed

Affiliation: Department of Dermatology, Medical Faculty, Balıkesir University, Balıkesir, Turkey. Head of the Department: Arzu Kilic.

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

Seckel syndrome (SCKL) is an extremely rare form of primordial dwarfism characterized by growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, and skeletal malformations... In this review, two siblings with a combination of clinical, skeletal, ocular, dental and cytogenetic findings are presented in view of SCKL... General appearance of the patient was characterized by a small, narrow face and forehead, slightly beaked nose, midfacial hypoplasia, very stunted stature with microcephaly (Figure 1)... She was pseudophakic in both eyes from previous cataract surgery when she was 23 years old... There was no significant retinal abnormality observed... Electroretinography (ERG) showed subnormal amplitude of rod-mediated and cone-mediated responses... On intraoral examination, the patient had severe periodontitis, and as a result she had multiple loose teeth, bacterial plaques, lack of posterior first molar teeth on superior chin... The anatomical morphology of the teeth was normal, but she had enamel hypoplasia especially on superior and inferior chin on labial surfaces... Consistent clinical findings in both siblings supported the decision to test the patients’ chromosomes for instability in response to clastogenic agents which are supposed to be caused by defects in the ATR gene coding for ataxia telangiectasia and Rad3 related protein in at least one type of Seckel syndrome... The matched untreated and control cultures were detected as break free... Both patients were found to have normal chromosomal constitution in conventional G-banded metaphase analyses... SCKL (OMIM 210600), belonging to the group of osteodysplastic primordial dwarfism, is characterized by antenatal and postnatal growth delay... Another complication that has been reported in SCKL is acute myeloid leukemia (AML)... Our patients did not have any hematological abnormalities.

No MeSH data available.